IVMS Genetics Flash Facts

Q0001:What does it mean for genetic code to be commaless?

Genetics Flash Facts

Read from a fixed starting point as a continuous sequence of

Q0002:What does it mean for genetic code to be non-

overlapping?

Read from a fixed starting point

Q0003:What does it mean for genetic code to be universal?

Genetic code is conserved throughout evolution

Q0004:What are the properties of the genetic code?

1. Unambiguous;2. Degenerate/redundant;3.

Commaless/nonoverlapping;4. Universal

Q0005:When is genetic code not commaless/nonoverlapping?

In some viruses

Q0006:What are exceptions to universality of genetic code?

1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some

yeasts

Q0007:Name that mutation: Same amino acid; often with a

base change in 3rd position of codon

Silent mutation

Q0008:What kind of mutation is called: silent

Same amino acid; often with a base change in 3rd position of

Q0009:What mutation is masked by tRNA wobble?

Silent mutations

Q0010:Name that mutation: Changed amino acid whose

structure is dissimilar to proper amino acid

Missense mutation (not conservative)

Q0011:Name that mutation: Changed amino acid whose

structure is similar to proper amino acid

Conservative missense mutation

Q0012:What kind of mutation is called: missense

Amino acid is changed. If the structure of the new amino acid

is similar to the original; it is called conservative.

Q0013:Name that mutation: Change resulting in early stop

Nonsense mutation;(Mnemonic: Stop the nonsense!)

Q0014:What kind of mutation is called: nonsense

Change resulting in early stop codon;(Mnemonic: Stop the

nonsense!)

Q0015:Name that mutation: change resulting in misreading of

all nucleotides downstream; usually resulting in a truncated

protein

Frame shift mutation

Q0016:What kind of mutation is called: frameshift

change resulting in misreading of all nucleotides downstream;

usually resulting in a truncated protein

Q0017:Mutations ordered by decreasing severity of damage

1. Nonsense;2. Missense;3. Silent

Q0018:Eukaryotic genome: single/multiple origins of

replication

multiple

Q0019:Prokaryotic genome: single/multiple origins of

replication

single

Q0020:Eukaryotic genome: Trigger for replication

Consensus sequence of AT-rich base pairs

Q0021:Prokaryotic genome: Describe DNA replication

Continuous bidirectional DNA synthesis on leading strand

and discontinuous (Okazaki fragments) on lagging strand

Q0022:Enzyme function: DNA topoisomerases

Create a nick in the helix to relieve supercoils

Q0023:DNA Topoisomerase I: Mechanism

cuts one strand; passes the other through it then reanneals the

cut strand

Q0024:DNA Topoisomerase II: Mechanism

cuts both strands; and passes an unbroken double strand

through it then reanneals the cut strand

Q0025:Enzyme function: Primase

Makes an RNA primer on which DNA polymerase III can

initiate replication

Q0026:DNA polymerase III: Mechanism

1. Adds deoxynucleotides to the 3' end until it reaches primer

of preceding fragment;2. 3' to 5' exonuclease activity

"proofreads" each added nucleotide

Q0027:DNA polymerase III: Which direction does it read?

3' to 5'

Q0028:DNA polymerase III: Which direction does it write?

5' to 3'

Q0029:DNA polymerase III: Which direction does it

proofread?

3' to 5'

Q0030:Enzyme function: DNA polymerase III

Elongates the chain

Q0031:Enzyme function: DNA polymerase I

Degrades RNA primer and fills in the gap with DNA

Q0032:DNA polymerase I: Which direction does it read?

3' to 5'

Q0033:DNA polymerase I: Which direction does it write?

5' to 3'

Q0034:DNA polymerase I: Which direction does it

proofread?

5' to 3'

Q0035:Enzyme function: DNA helicase

Separates the two strands of DNA into single strands

allowing for replication to occur. The position of these

separated strands is called the replication fork.

Q0036:Types of DNA repair

Single stranded;1. Nucleotide excision repair;2. Base excision

repair;3. Mismatch repair;Double stranded;1. Nonhomologous

end joining

Q0037:Nucleotide excision repair: Mechanism

1. Specific endonucleases release the oligonucleotide

containing damaged bases;2. DNA polymerase and ligase fill

and reseal the gap; respectively

Q0038:In what condition is nucleotide excision repair

mutated?

Xeroderma pigmentosa (dry skin with melanoma and other

cancers)

Q0039:Base excision repair: Mechanism

1. Specific glycosylases recognize and remove damaged

bases;2. AP endonuclease cuts DNA at apyrimidinic site;3.

Empty sugar is removed;4. Gap is refilled and resealed

Q0040:Mismatch repair: Mechanism

1. Unmethylated; newly synthesized string is recognized;2.

Mismatched nucleotides are removed;3. Gap is refilled and

resealed

Q0041:In what condition is mismatch excision repair

mutated?

Hereditary Nonpolyposis Colon Cancer

Q0042:Nonhomologous end joining: Mechanism

Brings together two ends of DNA fragments (no requirement

for homology)

Q0043:What is on the 5' end of a nucleotide

Triphosphate

Q0044:What is on the 3' end of a nucleotide

Hydroxyl group

Q0045:True/False: DNA is synthesized 5' to 3'

Q0046:True/False: DNA is synthesized 3' to 5'

Q0047:True/False: RNA is synthesized 5' to 3'

Q0048:True/False: RNA is synthesized 3' to 5'

Q0049:True/False: Protein synthesis proceeds 5' to 3'

Q0050:True/False: Protein synthesis proceeds 3' to 5'

Q0051:Types of RNA and their important qualities

Massive; Rampant; Tiny;mRNA is the largest type;rRNA is

the most abundant type;tRNA is the smallest type

Q0052:What does eukaryotic RNA polymerase I make?

Q0053:What does eukaryotic RNA polymerase II make?

Q0054:What does eukaryotic RNA polymerase III make?

Q0055:Which RNA polymerase makes rRNA?

eukaryotic RNA polymerase I and prokaryotic RNA

polymerase

Q0056:Which RNA polymerase makes mRNA?

eukaryotic RNA polymerase II and prokaryotic RNA

polymerase

Q0057:Which RNA polymerase makes tRNA?

eukaryotic RNA polymerase III and prokaryotic RNA

polymerase

Q0058:True/False: RNA polymerase proofreads.

Q0059:True/False: RNA polymerase does not proofread.

Q0060:Special points about RNA polymerase II

1. Opens DNA at promoter site;2. Inhibited by alpha-

amanitin

Q0061:What does alpha-amanitin do?

Inhibits RNA polymerase II leading to hepatic necrosis

Q0062:mRNA initiation codons

1. AUG (inAUGurates protein synthesis);2. GUG (rarely)

Q0063:What does the mRNA initiation codon code for?

Methionine in eukaryotes. formyl-methionine in prokaryotes.

Q0064:mRNA stop codons

1. UGA (U Go Away);2. UAA (U Are Away);3. UAG (U

Are Gone)

Q0065:Define promoter of gene expression.

Site where RNA polymerase and multiple other transcription

factors bind to DNA upstream from gene locus

Q0066:What characterizes a promoter of gene expression?

AT-rich upstream sequence with TATA and CAAT boxes

Q0067:What is the result of promoter mutation?

Dramatic decrease in amount of gene transcribed

Q0068:Define enhancer of gene expression.

Stretch of DNA that alters gene expression by binding

transcription factors. May be located close to; far from; or

even within the gene whose expression it regulates.

Q0069:Define operator of gene expression

Site where repressors bind

Q0070:What is alternative splicing?

Rearrangement of exons to make unique proteins

Q0071:What is the sequence of mRNA splicing?

1. Primary transcript combines with snRNP ("snerp") to form

spliceosome;2. Lariat-shaped intermediate is generated;3.

Lariat is released to remove intron precisely and join two

Q0072:Where and when does eukaryotic RNA processing

happen?

In the nucleus after transcription

Q0073:What is the initial RNA transcript called?

heterogeneous nuclear RNA (hnRNA)

Q0074:What are the steps in processing hnRNA to make

mRNA? (Note: This is more than splicing.)

1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on

3' end (approximately 200 As);3. Splicing out of introns

Q0075:How many nucleotides does tRNA contain?

75 to 90 nucleotides

Q0076:What sequence does every tRNA share at the 3' end?

CCA along with a high percentage of chemically modified

Q0077:Amino acid binding to tRNA: Where (on the tRNA)

and how?

Where: 3' end;How: Covalently

Q0078:What is the enzyme involved in processing tRNA

Aminoacyl tRNA synthetase (uses 1 ATP)

Q0079:Aminoacyl tRNA synthetase: Mechanism

1. Scrutinizes amino acid before it binds to tRNA;2. Binds

AMP-amino group to 3' end of tRNA;3. Scrutinizes amino

acid again. If incorrect; bond is hydrolyzed.

Q0080:What is wrong with a mischarged tRNA

Reads the regular bond but inserts wrong amino acid.

Q0081:Which position on the codon is the wobble position?

3rd position

Q0082:Names of the steps in protein synthesis

1. Initiation;2. Elongation;3. Termination

Q0083:Sequence of events in the initiation step of protein

synthesis.

1. Initiation factors assemble the 40S ribosomal subunit with

the initiator tRNA;2. mRNA and (60S?) ribosomal subunit

combine with the 40S subunit;3. Initiation factors are released.

Q0084:Sequence of events in the elongation step of protein

synthesis.

1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase

catalyzes peptide bond formation;3. Peptidyltransferase

transfers growing polypeptide to amino acid in A site;4.

Ribosome advances three nucleotides toward 3' end of RNA

moving peptidyl RNA to P site.

Q0085:Sequence of events in the termination step of protein

synthesis.

1. Completed protein is released from ribosome;2. Ribosome

dissociates.

Q0086:Role of ATP in protein synthesis

ATP does tRNA Activation (charging)

Q0087:Role of GTP in protein synthesis

GTP does tRNA Going places (aka translocation) and

Gripping

Q0088:Role of A site in protein synthesis

A site holds incoming Aminoacyl tRNA.

Q0089:Role of P site in protein synthesis

P site accomodates growing Peptide.

Q0090:Role of E site in protein synthesis

E site holds Empty tRNA as it Exits

Q0091:Which post-translational modification involves

removal of N or C terminal pro-peptides from zymogens to

generate mature proteins?

Trimming

Q0092:What happens in post-translational trimming?

removal of N or C terminal pro-peptides from zymogens to

generate mature proteins

phosphorylation?

post-translational covalent alteration

Q0094:What happens during post-translational covalent

alterations?

Either;1. Phosphorylation;2. Glycosylation;3. Hydroxylation

glycosylation?

hydroxylation?

Q0097:What happens during proteasomal degradation?

Attachment of ubiquitin to defective proteins to tag them for

breakdown.

Q0098:Ubiquitin or Ubiquinone: Proteosomal degradation

Ubiquitin

Q0099:Ubiquitin or Ubiquinone: Coenzyme Q in oxidative

phosphorylation

Ubiquinone

Q0100:Where in the cell does the following occur: Fatty acid

oxidation (beta-oxidation)

Mitochondria

Q0101:Where in the cell does the following occur: acetyl-CoA

production

Mitochondria

Q0102:Where in the cell does the following occur: Krebs cycle

Mitochondria

Q0103:Where in the cell does the following occur: Glycolysis

Cytoplasm

Q0104:Where in the cell does the following occur: Fatty acid

synthesis

Cytoplasm

Q0105:Where in the cell does the following occur: Hexose

Monophosphate Shunt

Cytoplasm

Q0106:Where in the cell does the following occur: Protein

Synthesis

Rough endoplasmic reticulum in the cytoplasm

Q0107:Where in the cell does the following occur: Steroid

synthesis

Smooth endoplasmic reticulum in the cytoplasm

Q0108:Where in the cell does the following occur:

Gluconeogenesis

Pathway has steps in the mitochondria and in the cytoplasm

Q0109:Where in the cell does the following occur: Urea cycle

Q0110:Where in the cell does the following occur: Heme

synthesis

Q0111:What type of bonds hold the phosphoryls together in

ATP; and how much energy are the bonds worth?

Phosphoanhydride bonds are worth 7 kilocalories per mole

(but only between the alpha and beta and the beta and the

gamma; thus AMP's phosphoryl is not cleaved off for energy)

Q0112:How many ATP molecules are produced by aerobic

metabolism of glucose?

38 via the Malate shuttle; and 36 via the G3P shuttle.

Q0113:In aerobic metabolism of glucose; which pathway

produces 38 ATP?

Malate shuttle

Q0114:In aerobic metabolism of glucose; which pathway

produces 36 ATP?

G3P shuttle

Q0115:How much ATP is produced by anaerobic glycolysis?

2 ATP per glucose

Q0116:What is this molecule an activated carrier of?: ATP

Phosphoryls

Q0117:What is this molecule an activated carrier of?: NADH

Electrons

Q0118:What is this molecule an activated carrier of?: NADPH

Electrons

Q0119:What is this molecule an activated carrier of?: FADH2

Electrons

Q0120:What is this molecule an activated carrier of?:

Coenzyme A

Lipoamide

Q0122:What is this molecule an activated carrier of?: Biotin

Tetrahydrofolate

1-carbon units

Q0124:What is this molecule an activated carrier of?: S-

adenosyl-methionine

Methyl groups

Thiamine Pyrophosphate

Aldehydes

Q0126:What activated carriers carry: Phosphoryl

ATP and GTP

Q0127:What activated carriers carry: Electrons

1. NADH;2. NADPH;3. FADH2

Q0128:What activated carriers carry: Acyl

1. Coenzyme A;2. Lipoamide

Q0129:What activated carriers carry: CO2

Biotin

Q0130:What activated carriers carry: 1-carbon units

1. Tetrahydrofolates (originally as formyl then methyl);2.

Biotin (as CO2);3. S-adenosyl-methionine (as CH3)

Q0131:What activated carriers carry: CH3 groups

1. S-adenosyl-methionine;2. N5-methyl-THF

Q0132:What activated carriers carry: Formyl groups

N10-formyl-THF

Q0133:What activated carriers carry: Aldehydes

Thiamine Pyrophosphate

Q0134:ATP and methionine react to form what?

S-adenosyl-methionine

Q0135:What reacts to yield S-adenosyl-methionine?

ATP and methionine

Q0136:What vitamin is necessary for regeneration of S-

adenosyl-methionine?

Vitamin B12

Q0137:When is NAD used?

Catabolic processes to carry reducing equivalents away as

Q0138:When is NADPH used?

1. Anabolic process (steroid and fatty acid synthesis);2.

Respiratory burst;3. P-450

Q0139:Where does NADPH come from?

HMP shunt

Q0140:What disease results from NADPH oxidase

deficiency?

Chronic Granulomatous Disease

Q0141:This enzyme phosphorylates glucose with high

affinity.

Hexokinase (as opposed to glucokinase)

Q0142:This enzyme phosphorylates glucose with low

affinity.

Glucokinase (as opposed to hexokinase)

Q0143:This enzyme phosphorylates glucose with a low

capacity.

Q0144:This enzyme phosphorylates glucose and is feedback

inhibited by Glucose-6-Phosphate.

Q0145:This enzyme phosphorylates glucose with a high

capacity.

Q0146:This enzyme phosphorylates glucose and is not

feedback inhibited.

Q0147:Glucokinase: Where is it found and why does it do

what it does?

Found in the liver and pancreatic beta cells. Phosphorylates

glucose to sequester it after a big meal.

Q0148:Hexokinase: Where is it found and why does it do

what it does?

Found in every cell's cytoplasm. Phosphorylates glucose to

proceed with glycolysis.

Q0149:What are the net reactants and products in glycolysis.

Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2

NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2

H+;5. 2 H20

Q0150:What are the rate limiting steps of glycolysis?

1. Hexokinase (Glucose to Glucose-6-P);2.

*Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6-

BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)

Q0151:Phosphofructokinase-1: What does it do; and what

stimulates and inhibits it?

PFK-1 1-phosphorylates fructose-6-phosphate to produce

Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need

more of me);2. Citrate (my cycle is going well);Stimulated

by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP

(The fact that I'm being made means there's tons of glucose.)

Q0152:Pyruvate kinase: What does it do; and what stimulates

and inhibits it?

Pyruvate kinase converts phosphoenolpyruvate to pyruvate;

thereby producing two ATP;Inhibited by;1. ATP (don't need

more of me);2. Alanine (I came from pyruvate; so we don't

need any more.);Stimulated by;1. Fructose-1;6-BP (I was told

we needed more ATP; so here I am; so you better move the

line along.)

Q0153:Pyruvate dehydrogenase: What does it do; and what

stimulates and inhibits it?

Pyruvate dehydrogenase converts pyruvate to acetyl-coA;

and produces NADH and CO2;Stimulated by: excess

pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't

need anymore of me.);2. NADH (You produce NADH; soon

there'll be more of me.);3. Acetyl-CoA (Enough of me; save

your pyrvuate.)

Q0154:What disease state is glycolytic enzyme deficiency

generally associated with?

Hemolytic anemia

Q0155:What is the mechanism of hemolytic anemia in

someone with glycolytic enzyme deficiency?

1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of

ATP leads to inactivity of Na; K-ATPase pump;3. Lack of

the pump leads to sodium influx;4. Water follows sodium into

the cell;5. The cell swells and bursts.

Q0156:What are the two most common glycolytic enzyme

deficiencies?

Pyruvate kinase (95% of cases) followed by glucose

phosphate isomerase (4% of cases)

Q0157:What are the 5 cofactors necessary for pyrvuate

dehydrogenase?

Lipoic acid plus the first four B vitamins in their active

forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA

Q0158:What are the 5 cofactors necessary for alpha-

ketoglutarate dehydrogenase?

Lipoic acid plus the first four B vitamins in their active

forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA

Q0159:What are the net reactants and products in the reaction

that Pyruvate Dehydrogenase catalyzes?

Reactants;1. Pyruvate;2. CoA;3. NAD;Products;1. Acetyl

CoA;2. CO2;3. NADH

Q0160:What activates and what inhibits pyruvate

dehydrogenase?

Activated by exercise; which stimulates;1. Increased

NAD/NADH ratio (We need more NADH.);2. Increased

ADP (We need more ATP.);3. Ca2+ (More of me leads

muscles to contract; and I'm taken up by mitochondria where

I tell PDH that we need more ATP.);Inhibited by;1. NADH

(No more of me please);2. ATP (likewise);3. Acetyl CoA

(ditto)

Q0161:Lipoamide or lipoate: Which carries aldehydes?

Lipoamide

Q0162:Lipoamide or lipoate: Which is a cofactor for pyruvate

dehydrogenase?

Lipoate (Lipoic acid)

Q0163:What toxin inhibits lipoic acid?

Arsenic

Q0164:What is the presentation of arsenic toxicity?

1. Vomiting;2. Rice water stools;3. Garlic breath

Q0165:Pyruvate dehydrogenase deficiency: Mechanism

Backup of pyruvate and alanine leads to lactic acidosis.

Q0166:Pyruvate dehydrogenase deficiency: Congenital or

Acquired

Both. Acquired cases happen in cases of B1 deficiency (such

as in alcoholics.)

Q0167:Pyruvate dehydrogenase deficiency: Presentation

Lactic acidosis and neurologic defects

Q0168:Pyruvate dehydrogenase deficiency: Treatment

Increased intake of ketogenic nutrients (such as high fat

content or increased lysine and leucine)

Q0169:What are the miscellaneous fates of pyruvate; and

what are the end products used for?

1. Alanine: Carries amino groups to the liver from muscle;2.

Oxaloacetate: Replenishes TCA cycle or is used

gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4.

Lactate: No good use

Q0170:Which tissues and organs primarily convert pyruvate

into lactate?

1. RBCs and WBCs;2. Lens and cornea;3. Renal medulla;4.

Testes

Q0171:What enzymes and cofactors are used in conversion of

pyruvate to alanine?

Enzyme: Alanine Transaminase (ALT);Cofactors: None

Q0172:What enzymes and cofactors are used in conversion of

pyruvate to oxaloacetate?

Enzyme: Pyruvate Carboxylase (contains biotin and

magnesium);Cofactors: CO2 and ATP

Q0173:What are the reactants and products in the reaction

catalyzed by pyruvate carboxylase?

Reactant;Pyruvate (with CO2 and

ATP);Product;Oxaloacetate

Q0174:What are the reactants and products in the reaction

catalyzed by lactate dehydrogenase?

This reaction is reversible; so the products can switch with

the reactants;Reactants;1. Pyruvate;2. NADH

(rehydrogenates in this direction);3. H+;Products;1. Lactate;2.

Q0175:Where do the various pyruvate transformation

reactions happen?

Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate

to/from pyruvate);Mitochondria;1. Pyruvate carboxylase

(pyruvate to oxaloacetate);2. Pyruvate dehydrogenase

(pyruvate to acetyl-coa)

Q0176:Where does the Cori Cycle happen?

In the liver and muscle/RBCs;Liver: Pyruvate converts to

glucose;Muscle/RBCs: Glucose converts to Pyruvate

Q0177:What is the purpose of the Cori cycle?

Transfers excess reducing equivalents from RBCs and the

muscle to liver so they can function anaerobically

Q0178:What reaction does citrate synthase catalyze?

Oxaloacetate and acetyl coA combine to yield citrate.

Q0179:What is the order of the citric acid cycle beginning at

citrate?

CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cis-

Aconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl

CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate

cis-aconitate?

1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl

coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9.

citrate

isocitrate?

1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4.

succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cis-

aconitate

alpha-ketoglutarate?

1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4.

fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9.

isocitrate

succinyl coA?

1. succinyl coA;2. succinate;3. fumarate;4. malate;5.

oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alpha-

ketoglutarate

succinate?

Sex Feels Marvelous Over Cordelia And If Kruti Sucks-a-

Neil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5.

Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9.

succinyl coA

fumarate?

1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cis-

aconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9.

succinate

malate?

1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5.

isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8.

succinate;9. fumarate

oxaloacetate?

1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alpha-

ketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9.

malate

Q0188:What stimulates and inhibits citrate synthase?

Stimulate: Nothing;Inhibit: ATP

Q0189:What stimulates and inhibits isocitrate dehydrogenase?

Stimulate: ADP;Inhibit;1. ATP;2. NADH

Q0190:What stimulates and inhibits alpha-ketoglutarate

dehydrogenase?

Stimulate: Nothing;Inhibit;1. ATP;2. NADH;3. Succinyl CoA

Q0191:Which steps in the citric acid cycle produce CO2?

The steps where carbons are lost; the two structures after

isocitrate each have one less carbon than the last;1. Isocitrate

to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA

Q0192:Which steps in the citric acid cycle produce reducing

equivalents?

The only step that produces FADH2 is the only one that also

yields an F product;1. Isocitrate to alpha ketoglutarate (1

NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3.

Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate

(1 NADH)

Q0193:Which steps in the citric acid cycle produce ATP?

None; however 1 GTP is produced from the conversion of

Succinyl CoA to Succinate.

Q0194:How much ATP is produced by the citric acid cycle

per molecule of acetyl coA?

12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2

ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The

total is 12 ATP

Q0195:How much ATP is produced by the citric acid cycle

per molecule of glucose?

24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2

ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The

total is 12 ATP per acetyl coA. However; there are 2 acetyl

coA molecules produced per glucose molecule. Thus the total

is 24.

Q0196:Name the complexes and important coenzymes and

cytochromes in the electron transport chain.

1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome

C;5. Complex IV;6. Complex V

Q0197:Where in the electron transport chain do NADH and

FADH2 release their electrons?

Complex I

Q0198:Where in the electron transport chain is O2 reduced to

Complex IV

Q0199:Where in the electron transport chain is ADP

converted to ATP?

Complex V aka ATP synthase aka mitochondrial ATPase

Q0200:Name three classes of oxidative phosphorylation

poisons.

1. Electron transport inhibitors;2. ATPase inhibitors;3.

Uncoupling agents

Q0201:What is the mechanism of electron transport

inhibitors?

1. Directly inhibit electron transport causing;2. Decreased

protein gradient and decrease in O2 consumption; thereby;3.

Blocking ATP synthesis

Q0202:What is the mechanism of ATPase inhibitors?

1. Directly inhibit mitochondrial ATPase causing;2. Increased

protein gradient and increased oxygen consumption; but no

ATP is produced because electron transport stops.

Q0203:What is the mechanism of uncoupling agents?

"Uncouples" ATP synthesis from gradient production;1.

Increase permeability of membrane;2. Proton gradient

decreases; but oxygen consumption increases; as the gradient

is not being maintained;3. ATP synthesis stops; but electron

transport continues.

Q0204:What is rotenone?

An electron transport inhibitor.

Q0205:What is the mechanism of CN?

Electron transport inhibition

Q0206:What is the mechanism of CO?

Electron transport inhibition

Q0207:What is antimycin A?

An electron transport inhibitor.

Q0208:What is the mechanism of oligomycin?

ATPase inhibition

Q0209:What is the mechanism of thermogenin?

Uncoupling protein OR UCP which is an uncoupling agent

Q0210:Where is thermogenin found?

Brown adipose tissue

Q0211:What is the mechanism of 2;4-dinitrophenol?

Uncoupling agent

Q0212:Name three uncoupling agents

1. UCPs (such as Thermogenin);2. 2;4-dinitrophenol;3.

aspirin

Q0213:Name the irreversible enzymes in gluconeogenesis; and

where they are found.

Pathway Produces Fresh Glucose;All the enzymes are found

only in the liver; kidney; and intestinal epithelium;1. Pyruvate

carboxylase in the mitochondria;2. PEP carboxykinase in the

cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4.

Glucose-6-Phosphatase in the endoplasmic reticulum

Q0214:Name the irreversible enzymes in glycolysis.

1. Hexokinase;2. Phosphofructokinase-1;3. Pyruvate kinase;4.

Pyruvate dehydrogenase

Q0215:What are the requirements of PEP carboxykinase?

Q0216:Where does the pentose phosphate pathway happen?

Cytoplasm of Red Blood Cells; and in lactating mammary

glands; liver; and adrenal cortex (all sites of fatty acid or

steroid synthesis except RBCs)

Q0217:How much ATP is used in the pentose phosphate

shunt?

Q0218:What are the main products of the pentose phosphate

shunt and their uses?

1. NADPH (for fatty acid and steroid synthesis; glutathione

reduction; and cytochrome P-450);2. Ribose-5-phosphate (for

nucleotide synthesis);3. G3P and F6P (glycolytic

intermediates)

Q0219:What are the key enzymes of the pentose phosphate

shunt and are the reactions reversible or irreversible?

1. Glucose-6-phosphate dehydrogenase (irreversible);2.

Transketolase (reversible)

Q0220:What does transketolase require?

Thiamine (Vitamin B1)

Q0221:What is the rate-limiting enzyme in the Pentose

phosphate pathway?

Glucose-6-Phosphate Dehydrogenase

Q0222:What is glutathione used for?

Detoxification of free radicals and peroxides.

Q0223:What does NADPH deficiency in RBCs result in?

Hemolytic anemia

Q0224:Name some oxidizing agents that someone with a

G6PD deficiency is vulnerable to.

1. Fava beans;2. Sulfonamides;3. Primaquine;4.

Antituberculosis drugs

Q0225:What protection does G6PD deficiency provide?

Protection against malaria

Q0226:Which group is more likely to have G6PD deficiency?

Blacks

Q0227:What are Heinz bodies?

altered Hemoglobin precipitates within RBCs; found in G6PD

deficiency

Q0228:What histologic change is seen in G6PD deficiency

Heinz bodies within red blood cells

Q0229:What is the etiology of fructose intolerance?

1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3.

Decrease in available phosphate;4. Inhibition of

glycogenolysis and gluconeogenesis

Q0230:What is the clinical presentation of fructose

intolerance?

hypoglycemia; jaundice; cirrhosis; and vomiting

Q0231:What is the difference in presentation between von

Gierke's disease and fructose intolerance?

Both have hypoglycemia; jaundice; cirrhosis and vomiting;von

Gierke's disease also has lactic acidosis whereas fructose

intolerance does not.

Q0232:What is the treatment for fructose intolerance?

Decreased intake of both fructose and sucrose.

Q0233:What is the etiology of essential fructosuria?

Defect in fructokinase leading to lack of metabolism of

fructose. Benign and asymptomatic

Q0234:What is the clinical presentation of essential

fructosuria?

Fructose appears in the blood and urine

Q0235:Which is more serious; essential fructosuria or fructose

intolerance?

Fructose intolerance; because it depletes the cells of

phosphate.

Q0236:What is the etiology of classic galactosemia?

1. Absence of galactose-1-phosphate uridyl transferase;2.

Build up of toxic substances including galactitol

Q0237:What is the presentation of classic galactosemia?

Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4.

Diarrhea;5. Jaundice;Late;1. Cataracts;2.

Hepatosplenomegaly;3. Mental retardation

Q0238:How does galactokinase deficiency present?

1. Galactosemia;2. Galactosuria;More severe symptoms such

as cataracts; hepatosplenomegaly and mental retardation can

follow.

Q0239:What is the treatment for classic galactosemia?

Exclude galactose and lactose from the diet.

Q0240:What enzyme converts galactose to galactitol?

Aldose reductase

Q0241:What does aldose reductase do?

Converts galactose to galactitol

Q0242:What enzyme converts Galactose to galactose-1-

phosphate?

Galactokinase

Q0243:What enzyme converts Galactose-1-Phosphate to

Glucose-1-Phosphate?

Uridyl transferase

Q0244:What enzyme converts UDP-galactose to UDP-

glucose?

4-epimerase

Q0245:What does galactokinase do?

converts Galactose to galactose-1-phosphate

Q0246:What does 4-epimerase do?

converts between UDP-galactose and UDP-glucose

Q0247:What does Uridyl transferase do?

1. converts UDP-glucose to UDP-galactose;2. converts

Galactose-1-Phosphate to Glucose-1-Phosphate

Q0248:What enzyme converts UDP-glucose to UDP-

galactose?

Uridyl transferase

Q0249:Which groups are more likely to be lactose intolerant?

1. Blacks;2. Asians

Q0250:What is the etiology of lactose intolerance?

Loss of brush-border lactase

Q0251:How does lactose intolerance present?

1. Bloating;2. Cramps;3. Osmotic diarrhea

Q0252:What is the treatment for lactose intolerance?

Avoid milk or add lactase pills to the diet

Q0253:What are the essential amino acids?

PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4.

Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8.

Alanine;9. Leucine;10. Lysine

Q0254:What are the conditionally essential amino acids; and

why are they conditionally essential?

The condition is age. They are necessary early in life during

growth;Mnemonic: Babies CRY for Help;1. Cysteine;2.

aRginine;3. tYrosine;4. Histidine

Q0255:Cysteine or Cystine: The amino acid

Cysteine

Q0256:Cysteine or Cystine: Two copies of the amino acid

joined by a disulfide bond

Cystine

Q0257:Is the following amino acid essential or inessential; and

is it glucogenic; ketogenic; or both?: Phenylalanine

Essential;Both glucogenic and ketogenic

is it glucogenic; ketogenic; or both?: Valine

Essential;Glucogenic

is it glucogenic; ketogenic; or both?: Tryptophan

is it glucogenic; ketogenic; or both?: Threonine

is it glucogenic; ketogenic; or both?: Isoleucine

is it glucogenic; ketogenic; or both?: Methionine

is it glucogenic; ketogenic; or both?: Histidine

is it glucogenic; ketogenic; or both?: Arginine

is it glucogenic; ketogenic; or both?: Leucine

Essential;Ketogenic

is it glucogenic; ketogenic; or both?: Lysine

Essential;Ketogenic

is it glucogenic; ketogenic; or both?: Tyrosine

Conditionally essential (during life and early

growth);(Phenylalanine and Tetrahydrobiopterin produce

tyrosine and dihydrobiopterin);Both glucogenic and ketogenic

is it glucogenic; ketogenic; or both?: Glutamate

Inessential (made from alpha-ketoglutarate);Glucogenic

is it glucogenic; ketogenic; or both?: Aspartate

Inessential (made from asparagine or oxaloacetate by aspartate

aminotransferase);Glucogenic

is it glucogenic; ketogenic; or both?: Proline

Inessential (Glutamate makes proline and

ornithine);Glucogenic

is it glucogenic; ketogenic; or both?: Glycine

Inessential (synthesized during reactions involving

tetrahydrofolate);Glucogenic

is it glucogenic; ketogenic; or both?: Cysteine

Conditionally essential (during life and early

growth);(Methionine begets S-adenosyl methionine which

begets intermediates which beget cysteine);Glucogenic

is it glucogenic; ketogenic; or both?: Alanine

Inessential (made from pyruvate by alanine aminotransferase

in the Cori cycle);Glucogenic

is it glucogenic; ketogenic; or both?: Serine

Inessential (made from a descendant of 3PG and with an

amine group from glutamate);Glucogenic

is it glucogenic; ketogenic; or both?: Glutamine

Inessential (made from glutamate);Glucogenic

is it glucogenic; ketogenic; or both?: Asparagine

Inessential (made from aspartate);Glucogenic

Q0277:Which amino acids are acidic?

Aspartate and glutamate are negatively charged at body pH

Q0278:Which amino acids are basic?

Arginine; Lysine and Histidine;Arginine and Lysine are

increased in histones which bind negatively charged

DNA;Histidine has no charge at body pH.

Q0279:Zinc deficiency: Presentation

"Delayed wound healing; hypogonadism; and decreased adult

hair (axillary; facial; pubic)"

Q0280:Zinc deficiency: Predisposes to what?

Alcoholic cirrhosis

Q0281:Ethanol metabolism: All steps with enzymes and

cofactors

"Step 1: Ethanol is oxidized by NAD (forming NADH) to

acetaldehyde using alcohol dehydrogenase. Step 2:

Acetaldehyde is oxidized by NAD (forming NADH) to

acetate using acetaldehyde dehydrogenase."

Q0282:Ethanol metabolism: Limiting reagent

Q0283:Ethanol metabolism: Order of kinetics of alcohol

dehydrogenase

Zero-order kinetics

Q0284:Disulfiram: Mechanism

"Disulfiram inhibits acetaldehyde dehydrogenase; leading to

an accumulation of acetaldehyde; leading to increased

hangover symptoms."

Q0285:Which drug inhibits acetaldehyde dehydrogenase?

Disulfiram

Q0286:Ethanol hypoglycemia: mechanism

"1. Ethanol metabolism increases NADH/NAD ratio in the

liver. 2. Pyruvate and oxaloacetate are reduced by NADH

respectively to lactate and malate. 3. Decreased pyruvate and

oxaloacetate leads to decreased gluconeogenesis. 4. Decreased

gluconeogenesis leads to hypoglycemia."

Q0287:What are the consequences of the altered

NADH/NAD ratio seen in alcoholics?

"Short-term: Hypoglycemia; Long-term: Hepatic fatty

change"

Q0288:What is the mechanism behind chronic fatty change in

alcoholics?

"1. Ethanol metabolism leads to an increased NADH/NAD

ratio in the liver. 2. This ratio prefers fatty acid synthesis

over glycolysis."

Q0289:Kwashiorkor: Clinical picture

Small child with a swollen belly and depigmented hair.

Q0290:Kwashiorkor: Clinical presentation

"Kwashiorkor results from protein-deficient MEALS.

Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin

lesions"

Q0291:Protein malnutrition leads to what disease?

Kwashiorkor (as opposed to Marasmus from energy

malnutrition)

Q0292:Energy malnutrition leads to what disease?

Marasmus (as opposed to Kwashiorkor from protein

malnutrition)

Q0293:Marasmus: Clinical presentation

"Tissue and muscle wasting; loss of subcutaneous fat; and

variable edema"

Q0294:"Chromatin structure: In the beads on a string analogy;

what are the beads?"

"Start with a nucleosome core made up of an 8 histone cube

(two each of positively-charged histones H2A; H2B; H3; and

H4). Negatively charged DNA loops twice around

nucleosome core."

Q0295:"Chromatin structure: In the beads on a string analogy;

what is the string and how long is it?"

Histone H1 ties the nucleosomes together in a 30-nm fiber

string

Q0296:Chromatin structure: What histones are included and

which of these are not in the nucleosome core?

"H1 (only one not in the core); H2A; H2B; H3; and H4"

Q0297:Heterochromatin or Euchromatin: Which is more

condensed?

Heterochromatin. Euchromatin is less condensed.

Q0298:Heterochromatin or Euchromatin: Which is less

condensed?

Euchromatin. Heterochromatin is more condensed.

Q0299:Heterochromatin or Euchromatin: Which is

transcriptionally active?

"Euchromatin (""eu"" means true; so think ""truly

transcribed"")"

Q0300:Heterochromatin or Euchromatin: Which is

transcriptionally inactive?

Heterochromatin

Q0301:Name the purines.

Adenine and Guanine

Q0302:Name the pyrimidines.

"Cytosine; Uracil; Thymine"

Q0303:Which base pair bond has 3 Hydrogen bonds?

Guanine to Cytosine

Q0304:Which base pair bond has 2 Hydrogen bonds?

Adenine to Thymine

Q0305:How many Hydrogen bonds does the Guanine to

Cytosine pairing have?

Q0306:How many Hydrogen bonds does the Adenine to

Thymine pairing have?

Q0307:Which amino acids are necessary for purine synthesis?

"Glycine; Aspartate; Glutamine"

Q0308:"In nucleic acids; what kind of substitution is a

transition?"

"TransItion = Identical type (Purine for purine or pyrimidine

for pyrimidine")

Q0309:"In nucleic acids; what kind of substitution is a

transversion?"

"TransVersion = conVersion between types (Purine for

pyrimidine or vice versa")

Q0310:What does it mean for genetic code to be

unambiguous?

Each codon specifies only one amino acid.

Q0311:What does it mean for genetic code to be degenerate?

More than one codon may code for the same amino acid.

Q0312:What does it mean for genetic code to be redundant?

More than one codon may code for the same amino acid.

Q0313:Which amino acid is coded by only one codon?

Methionine

Q0314:"~ average pKa of carboxyl group on AA"

Q0315:"~ pKa of side chain of Aspartic Acid"

Q0316:"~ pKa of side chain of Glutamic Acid"

Q0317:"~ pKa of side chain of Histidine"

Q0318:"~ pKa of side chain of Cysteine"

Q0319:"~ average pKa of amino group on AA"

Q0320:"~ pKa of side chain of Tyrosine"

Q0321:"~ pKa of side chain of Lysine"

Q0322:"~ pKa of side chain of Arginine"

Q0323:"An acid with a pKa of x serves as a buffer best at x +

what?"

"positive or negative 1 (equal amounts of charged and

uncharged acid)"

Q0324:"Trypsin cleaves peptides at which side of what

residues?"

"C-terminal of lysine or arginine (the most basic amino acids)"

Q0325:"Cyanogen bromide cleaves peptides at which side of

what residues?"

"C-terminal of methionine"

Q0326:"Pepsin cleaves peptides at which side of what

residues?"

"C-terminal side of tyrosine; phenylalanine; and tryptophan

(all have phenyl groups; these are the same bonds as

chymotrypsin. Pepsin's action ceases when the NaHCO3

raises the pH of the intestinal contents)"

Q0327:"Chymotrypsin cleaves peptides at which side of

what residues?"

"C-terminal side of tyrosine; phenylalanine; and tryptophan

residues (all have phenyl groups; these are the same bonds as

pepsin; whose action ceases when the NaHCO3 raises the pH

of the intestinal contents)."

Q0328:"# of aas in one turn of alpha-helix"

Q0329:"Amino acids that disrupt alpha-helix"

"proline; many charged aas; bulky side chains"

Q0330:"Which reagent sequentially removes N-terminal

residues from a polypeptide?"

"Phenylisothiocyanate (Edman degradation)"

Q0331:"Which reagent sequentially removes C-terminal

residues from a polypeptide?"

"Carboxypeptidase"

Q0332:"What kind of inheritance and mutation is the alpha-1-

antitrypsin deficiency?"

"Autosomal recessive; single purine substitution (GAG to

Q0333:"Anode: What does it attract?"

"Anions"

Q0334:"Anode: What does it contain?"

"Cations"

Q0335:"Cathode: What does it attract?"

"Cations"

Q0336:"Cathode: What does it contain?"

"Anions"

Q0337:"Inhibitors of electron transport from FMNH2 to

Coenzyme Q"

"Amytal and Rotenone"

Q0338:"Inhibitors of electron transport from Cytochrome b

to Cytochrome c"

"Antimycin A"

Q0339:"Inhibitors of electron transport from Cytochrome

a+a3 to Oxygen"

"Cyanide; CO; and Sodium azide"

Q0340:"Where do GLUT1 receptors predominate over other

GLUT receptors?"

"RBCs"

Q0341:"Where do GLUT4 receptors predominate over other

GLUT receptors?"

"Adipose tissue and skeletal muscle"

Q0342:"Which tissues have cotransport of glucose?"

"Epithelial cells of the intestine; renal tubular cells; and

choroid plexus"

Q0343:"Which tissues (7) need glucose as fuel?"

"Brain; RBCs; Renal medulla; lens; cornea; testes; exercising

muscle"

Q0344:"Where is pyruvate carboxylase found and not

found?"

"Found in mitochondria of liver and kidney cells; not foudn in

mitochondria of muscle"

Q0345:"Where is Fructose 1-6 bisphosphatase found?"

"Liver and kidney"

Q0346:"What is the Cori cycle?"

"Lactate in muscle is shuttled to liver where it is turned into

glucose."

Q0347:"How does glucagon stimulate gluconeogenesis?"

"Regulation of F2;6-BP and inactivation of Pyruvate Kinase

via elevation of cAMP-dependent protein kinase A."

Q0348:"This oxidation accounts for about two thirds of the

total oxygen consumption and ATP production in most

animals; including humans."

"Oxidation of acetyl coA to CO2 and H2O."

Q0349:"What inhibits pyruvate dehydrogenase?"

"Acetyl CoA and NADH (no need for more of either). These

activate PD kinase (Phosphorylates enzyme with ATP;

which must be in abundance; so no more is needed)"

Q0350:"What stimulates pyruvate dehydrogenase?"

"ADP (need more ATP. Inhibits PD kinase and stimulates PD

phosphatase.)"

Q0351:"Which is active?: Phosphorylated or

dephosphorylated pyruvate dehydrogenase"

"Dephosphorylated."

Q0352:"What inhibits citrate synthase?"

"ATP and NADH (no need for more of either); Succinyl CoA

(""Slow down partner; the guys ahead of you are trying to do

their job!""); Acyl CoA fatty acid derivatives (Citrate

provides acetyl CoA to synthesize fatty acids and activates

acetyl CoA carboxylase; rate limiting enzyme of fatty acid

synthesis)."

Q0353:"Where in glycolysis and TCA does CO2 come off?"

"3 places: Pyruvate to Acetyl CoA; Isocitrate to alpha-

ketoglutarate; and alpha-ketoglutarate to Succinyl CoA"

Q0354:"What is the rate-limiting step of the TCA?"

"Isocitrate to alpha-ketoglutarate by isocitrate

dehydrogenase"

Q0355:"What activates isocitrate dehydrogenase?"

Q0356:"What inhibits isocitrate dehydrogenase?"

"ATP and NADH"

Q0357:"Sources of Succinyl CoA"

"TCA intermediate; and from odd chained fatty acids; and

from propionyl coA from metabolism of branched-chain

amino acids."

Q0358:"Uses of Succinyl CoA"

"TCA intermediate; and biosynthesis of heme"

Q0359:"Where in the TCA does NADH come from?"

"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate;

alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"

Q0360:"Where in the TCA does FADH2 come from my

dear?"

"Succinate to fumarate my sweet."

Q0361:"Why is FAD used to oxidize succinate?"

"Succinate is not powerful enough to reduce NAD."

Q0362:"What are the important products of the HMP

pathway?"

"2 NADPH; Ribose; and glyceraldehyde-3-Phosphate and

Fructose-6-phosphate"

Q0363:"Which major metabolic reactions require Thiamine as

a cofactor?"

"TCA: Pyruvate dehydrogenase and alpha-ketoglutarate

dehydrogenase; HMP shunt: Transketolase"

Q0364:"What is NADPH used for?"

"1. Reductive biosynthesis (eg fatty acids and steroids) 2.

Reduction of oxygen directly (myeloperoxidase system's

famed respiratory burst) and hydrogen peroxide indirectly

(through reduction of glutathione) 3. Cytochrome P-450

mono-oxygenase system"

Q0365:"What is the famed respiratory burst?"

"The rapid conversion of O2 to superoxide using NADPH."

Q0366:"What disease process is due to a missing respiratory

burst?"

"Chronic granulomatous disease"

Q0367:"Where is the mutation for G6PD?"

"Point mutation in coding region of the G6PD gene (X-

linked)"

Q0368:"What is the relation of polyols to sugars?"

"Polyols are monosaccharides where the carbonyl group is

reduced to an alcohol."

Q0369:"What is a glycoside?"

"Carbohydrate attached to non-carbohydrate structures."

Q0370:"What is a reducing sugar?"

"A monosaccharide where the anomeric carbon (Carbon 1) is

free."

Q0371:"What is the result of lack of disaccharidase activity of

intestinal mucosa?"

"Osmotically active disaccharides suck water out of mucosa

causing osmotic diarrhea."

Q0372:"Where is fructokinase found?"

"Liver (processes most dietary fructose); kidney; small

intestine"

Q0373:"Why is fructose metabolism faster than glucose

metabolism?"

"Bypasses PFK; major regulatory step of glycolysis."

Q0374:"What enzyme is missing in hereditary fructose

intolerance?"

"Aldolase B"

Q0375:"What does aldose reductase do?"

"Reduces glucose to sorbitol"

Q0376:"Where is aldose reductase found?"

"Lens; retina; Schwann cells; kidney; placenta; RBCs; and

gonads"

Q0377:"What does sorbitol dehydrogenase do?"

"Oxidizes sorbitol to fructose."

Q0378:"Where is sorbitol dehydrogenase found?"

"Liver and gonads (ovaries; seminal vesicles; sperm)"

Q0379:"Mechanism of sorbitol toxicity"

"Extra glucose freely enters cells containing aldose reductase

which converts it to sorbitol. Sorbitol may not pass through;

and low or absent sorbitol dehydrogenase prevents it from

being changed to fructose. Strong osmotic effects lead to

swelling and damage."

Q0380:"Chondroitin Sulfate: Where found?/Distinguishing

characteristic from other GAGs"

"Cartilage; tendons; ligaments; aorta. Most abundant GAG in

body."

Q0381:"Chondroitin Sulfate: Use/Mechanism"

"Form proteoglycan aggregates. Cartilage: Bind collagen and

hold fibers in a tight; strong network"

Q0382:"Dermatan Sulfate: Where found?/Distinguishing

"Found in skin; blood vessels; and heart valves"

Q0383:"Dermatan Sulfate: Use/Mechanism"

Q0384:"Keratan Sulfate: Where found?/Distinguishing

"Found in cartilage proteoglycan aggregates with chondroitin

sulfate; and in cornea. Most heterogeneous GAG."

Q0385:"Keratan Sulfate: Use/Mechanism"

Q0386:"Heparin: Where found?/Distinguishing characteristic

from other GAGs"

"Intracellular compound (unlike other GAGs). Found in mast

cells of artery walls; especially in lungs; liver; and skin"

Q0387:"Heparin: Use/Mechanism"

"Anticoagulant"

Q0388:"Heparan Sulfate: Where found?/Distinguishing

"Extracellular; unlike heparin. Found in basement membrane

and as a ubiquitous component of cell surfaces."

Q0389:"Heparan Sulfate: Use/Mechanism"

Q0390:"Hyaluronic Acid: Where found?/Distinguishing

"Found in synovial fluid of joints; vitreous humor f eye;

umbilical cord; and loose connective tissue. Unlike other

GAGs: Unsulfated; not covalently attached to protein; and

only GAG not limited to animal tissue; but also found in

bacteria."

Q0391:"Hyaluronic Acid: Use/Mechanism"

"Lubricant and shock absorber"

Q0392:"Hunter's Syndrome vs Hurler's Syndrome: Enzyme

deficiency"

"Hunter's: Iduronate sulfatase; Hurler's: alpha-L-iduronidase"

Q0393:"Hunter's Syndrome vs Hurler's Syndrome: Corneal

clouding?"

"Hunter's: No; Hurler's: Yes"

Q0394:"Hunter's Syndrome vs Hurler's Syndrome: Mental

retardation?"

"Both (Hunter's ranges from mild to severe)"

Q0395:"Hunter's Syndrome vs Hurler's Syndrome: Physical

deformity?"

"Hunter's: Mild to severe; Hurler's: Dwarfing; coarse facial

features; (gargoylism)"

Q0396:"Hunter's Syndrome vs Hurler's Syndrome: Which

GAGs' degradation is affected?"

"Both: Dermatan sulfate and Heparan sulfate"

Q0397:"Hunter's Syndrome vs Hurler's Syndrome: Severity?"

"Hunter's: Less Hurler's: More"

Q0398:"Hunter's Syndrome vs Hurler's Syndrome:

Inheritance?"

"Hunter's: X-linked Recessive; Hurler's (and all other

mucopolysaccharidoses): Autosomal recessive"

Q0399:"Hunter's Syndrome vs Hurler's Syndrome: Aggressive

behavior?"

"Hunter's: Yes; Hurler's: No"

Q0400:"Mnemonic for Hurler's syndrome: HURLERS. What

does it stand for?"

"H: Hepatosplenomegaly/Heparan and Dermatan sulfate;

U:Ugly facies; R: aRteries filled with GAGs; L: L-

iduronidase; E: Eyes clouded; early death; R:

Retardation/Respiratory obstruction; S: Short/stubby fingers"

Q0401:"I-Cell disease: Pathophysiology"

"Inability of cell to phosphorylate mannose residues on

glycoproteins indicating that they are lysosome bound."

Q0402:"I-Cell disease: Presentation"

"Skeletal abnormalities; restricted joint movement; coarse

facial features; severe psychomotor impairment; death by 8

years"

Q0403:"Refsum Disease: Pathophysiology"

"Inability to degrade phytanic acid; resulting in accumulation

in plasma and tissues"

Q0404:What is PKU?

think smelly; retarded babies

Q0405:What's one reason that binging on booze is a bad idea

(aside from the ugly people you might sleep with;)?

alcohol-> increased NADH -> decreased gluconeogenesis ->

acidosis -> huge ER bill

Q0406:What is Kwashiorkor?

think Starvin' Marvin

Q0407:What's another reason for not being an alky (besides

the meetings)?

pellegra- vitamin B3 deficit that gives you a rash; the shits;

and altered mental status (even when sober)

Q0408:Why is my urine black and what the Hell are these

black dots on my eyes?!

alkaptonuria

Q0409:What is familial hypercholesterolemia?

defective LDL receptors-> accelerated atherosclerosis &

xanthomas

Q0410:Name the fat soluble vitamins; Fat Ass!

think Eating Donuts Adds Kilocalories!

Q0411:Why could a person be deficient in fat soluble

vitamins (esp considering that most of us have plenty of

space to store these buggers!)?

think malabsorption- sprue; CF; too much of Mom's mineral

oil tx (a spoon a day keeps the enema away!)

Q0412:What do B vitamin deficiencies result in (other than

pernicious anemia)?

dermatitis; glossitis; shits

Q0413:What is beriberi? Hint: It's not a Voodoo curse.

vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required

for TPP (generates pyruvate) & transketolase (HMP shunt)

Q0414:What's the difference b/w wet & dry beriberi (other

than that not so fresh feeling)?

dry= polyneuritis; muscle wasting;wet=dilated

cardiomyopathy; edema

Q0415:What happens when you don't get your riboflavin

(B2) on?

it's important to have ribo-"flava" (not just b/c the chicks dig

it) but FAD & FMN come from it; flava is not just a FAD

but a Functionally Mandatory Necessity! not having flava

causes angular stomatitis; cheliosis; & corneal vascularization

(chicks don't dig this)

Q0416:What the Hell is Pantothenate? Is that the crap in

Pantene that will give my hair lusterous shine upon one

washing?

it's B5. it helps make CoA & fatty acid synthase (no wonder

why i'm so damn sexy!); lack of B5 gives you dermatitis;

enteritis; alopecia & adrenal insufficiency. com'on girls; no

guy wants a flaky skinned; bald girlfriend who's adrenal glands

don't put out; so take your vitamins!

Q0417:Was I absent the day we learned about pyridoxine

(B6) or do I merely have a B6 deficiency?

I was probably in class the day they taught this but suffering

from convulsions/hyperirritablity due to my B6 deficiency

brought on by the stresses of med school. it turns out that B6

is needed for ALT; AST (transamination); decarboxylation; &

heme synthesis.

Q0418:Why is B12 important (for the umpteenth thousand

time)?

B12 (aka cobalamin)required for homocysteine methylation &

methylmalonyl-CoA handling; decreased homocysteine->

decreased methionine-> messed up myelin & increased

methylmalonyl-CoA-> increased methylmalonic acid->

messed up myelin; vegetarians eat your heart out (no really;

b/c its full of the B12 you'll need to thwart off macrocytic;

megaloblastic anemia); US causes are due to malabsorption (vs

dietary insufficiency); think sprue; Crohn's; pernicious

anemia; do a Schilling test

Q0419:Why is folic acid so important? Does it justify all of

the public service announcements?!

geeze; it's only important if you want to synthesize

DNA/RNA! why the concern??

Q0420:What's biotin? Sounds like some tree hugging herbal

medicine crap!

biotin is needed for carboxylating (eg oxaloacetate; malonyo-

CoA; methylmalonyl-CoA); deficits lead to dermatitis &

enteritis due to antibiotic use or ingesting raw eggs (Rocky

must have had some mad IBS!)

Q0421:Why do we need vitamin D?

b/c we don't want rickets! there is such thing as too much of a

good thing; though- too much vitamin D-> hypercalcemia;

stupor (think sarcoidosis)

Q0422:Why does Mom always shove vitamin C down your

throat?

no Mom wants a kid w/scurvy unless she's British. vitamin C

cross links collagen for healing; facilitates iron absorption; &

needed for dopamine synthesis (is this why the British are so

static?)

Q0423:What does vitamin E do?

protects RBCs

Q0424:What does vitamin K do?

K is for koagulation (spelling proficiency wasn't a requirement

for med school matriculation); intestinal coodies are required

for its synthesis (this is why babies & pts on broad spectrum

anti-biotics have increased PT & PTT; warfin is it's nemesis

(warfin is at war w/ vitamin K)

Q0425:Who are vitamin K's dependents?

after much investigation; the family court ruled that vitamin K

is responsible supporting its progenous clotting factors II;

VII; IX; X; & protein C (until age 18 whereby his progeny

will bleed to death)

Q0426:What vitamin keeps your testicles plump and your

hair flowing? (Guys; take notes!)

zinc; aside from small balls and baldness; lack of zinc will

cause delayed wound healing & predispose you to alcoholic

cirrhosis!

Q0427:Explain ethanol metabolism (and don't say you're too

drunk to remember!)

ethanol-> acetaldehyde-> acetate; requires alcohol

dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH;

NAD+ is limiting reagent

Q0428:What gives you a hang-over? Hint: the answer isn't St.

Ides Malt Liquor (although this is justifiable).

saturation of acetylaldehyde dehydrogenase; this is how

antabuse works

Q0429:What is marasmus?

tissue/muscle wasting due to energy malnutrition (compare

w/Kwashiorkor)

Q0430:What is a nucleosome?

it's the DNA AND core histones; the "beads" on the string

that; altogether; comprise what's called chromatin

Q0431:What's so cool about H1 (histone 1)?

it's the histone that ties all the nucleosomes together. H1 is a

rebel; not part of the core b/c it's too cool for the core.

Q0432:What is heterochromatin? Hint: chromatin does not

have a sexual preference.

this is the transcriptionally abstaining form of chromatin. it's

very uptight (looped around histones). it's not promiscuous

like that loose slut euchromatin.

Q0433:Name the purines?

think "pure As Gold"- A;G

Q0434:What nucleotides bind to which?

G-C (strongest); A-T

Q0435:What goes into making a good purine?

besides sugar and spice and everything nice; purines require

glycine; aspartate; and glutamine

Q0436:What's this difference b/w a transition mistake & a

transversion mistake?

transItion= Identical substitute;transVersion= conVersion b/w

Q0437:Why will mother nature never receive a Pulitzer Prize?

b/c her writing is redundant and lacks punctuation. in her

defense; her writing is also unambiguous & used universally

Q0438:What's a silent mutation?

it's more palatable than a missense or nonsense mutation.

think "it is better to remain silent & be thought a fool then to

speak & remove all doubt". silent mutations are often the

result of a tRNA wobble at the 3rd position (damn it tRNA;

switch to decaf!)

Q0439:What is a missense mutation?

it's replacing one aa with a similar aa. kind of like substituting

a democrat with a republican.

Q0440:What is a nonsense mutation?

think stop the nonsense

Q0441:What is a frame shift mutation?

this is really bad. its when your tRNA starts reading The

Oddessy but becomes impatient & settles for the Cliff Notes.

Q0442:How are DNA topoisomerases & conditioner alike?

they both remove those pesky tangles!

Q0443:Why is DNA so codependent?

DNA; like many of us; needs the motivation of another to

function. primase is the muse of DNA. she (or he) makes the

RNA primer on which DNA polymerase III can begin

replication.

Q0444:Does DNA polymerase ever look back?

it may seem that DNA polymerase has no regrets and

unaffectedly carries on in his 5'->3' direction. in truth; though;

he is very aware of his past mistakes & corrects them in the

3'->5' direction with exonucleases.

Q0445:What does DNA polymerase I have against RNA

primer?

she has always hated that tart; RNA primer. thus she uses her

exonucleases to degrade RNA primer at any given chance &

fills in the gaps w/DNA (she is much against

interrelationships b/w RNA & DNA (she's a deoxyribose

supremicist).

Q0446:What keeps us from getting xeroderma pigmentosa?

we have endonucleases that kick out messed up nucleotides.

Q0447:Are all bases created equal?

NO! we make a lot of messed up bases that glycolases remove

by cutting the base out at a pyramimidic site.

Q0448:What happens when there're irreconsilable differences

b/w nucleotides?

if counseling doesn't work; then your body may hire a

mismatch repair attorney. people w/hereditary nonpolyposis

colon cancer lack access to litigation.

Q0449:What are the different kinds of RNA polymerases in

eukaryotes?

I=rRNA;II=mRNA;III=tRNA

Q0450:Which RNA polymerase helps DNA open up?

II=mRNA poly. her nemesis is her mother-in-law alpha-

amantin (she thwarts all efforts of mRNA poly by serving her

death cap mushrooms at all family get togethers).

Q0451:When does transcription begin?

in AUG just like school. codes for methionine

Q0452:When does transcription end (and don't say JUN)?

think U Go Away; U Are Away; U Are Gone (geeze; mRNA

can take a hint!).

Q0453:What is a promoter?

well DNA likes to be recognized for its contributions too. it

takes a lot of work to make protein & this should be

rewarded. DNA doesn't care about money; having a trust fund

an all; DNA is rewarded for its efforts by being somewhat

relieved of duty by RNA poly & other transcription factors.

this only takes place after DNA has done most of the work &

has reached a TATA or CAAT box.

Q0454:What is an enhancer?

area of DNA that attracts transcription factors that enhance

gene expression.

Q0455:What is an operator?

area of DNA that attracts transcription factors that repress

gene expression.

Q0456:What's the difference b/w an intron & exon?

exons are what contribute to your growth while introns are

just interuptions along the way (kind of like your first

boyfriends); introns remain in the nucleus.

Q0457:How does hnRNA become whole in spite of all of her

intron baggage?

well differences are the "splice" of life; so hnRNA discovers

new meaning by redefining herself via new experiences. she

decides to move on w/the aide of her snRP friends; forming a

spliceosome alliance. They help her release her intron baggage;

thereby allowing her to persue healthy relationships w/exons.

happy w/the exons; hnRNA agrees to seal the deal by capping

& polyadenylation (huge commitment). she is now referred to

as mRNA (she's old fashioned & conceeded to the name

change).

Q0458:What is Pellegra?

think 3D: diarrhea; dermatitis; dementia; caused by niacin

(B3) def or a tryptophan def; B3 comes from tryptophan.

Q0459:Name the Vitamin D forms.

D2= ergocalciferol (drink milk); D3= cholecalciferol (get some

sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form->

intestinal absorption of calcium & phosphate.

Q0460:What is tRNA?

transfer RNA is the pre-aminoacid. the amino acid is

covalently attached to its 3' end.

Q0461:What does tRNA look like?

cloverleaf shape; CCA at 3'end.

Q0462:what is aminoacyl-tRNA synthetase?

it's the enzyme that makes the amino acid; there's 1 for every

kind of amino acid; it is also a proof reader for its amino acid;

it requires ATP to make a peptide bond but will read the

transcript w/o it.

Q0463:why does tRNA wobble?

b/c it need only accurately read the first two nucleotides; then

it can just insert whatever (hopefully a nucleotide that codes

for the proper amino acid).

Q0464:How is protein synthesis initiated?

a 30S ribosome unit/initiator tRNA are hooked up w/the

assistance of initiation factors

Q0465:what happens during elongation?

1. aminoacyl tRNA binds to A site 2. peptidyltransferase

makes a peptide bond & transfers growing polypeptide chain

to A site 3. ribosome cruises 3 nucleotides toward 3' RNA

while moving peptidyl RNA to P site.

Q0466:how is protein synthesis terminated?

protein is released from ribosome.

Q0467:what is the E site of the ribosome?

where tRNA is held while exiting.

Q0468:what is trimming?

post-translational modification; removal of N or C terminal

from a zymogen.

Q0469:what is a covalent modification?

post-translational phosphor/glycos/hydroxylation.

Q0470:what does ubiquitin do?

it is the scarlet letter to be worn by defective proteins.

Q0471:how are cell cycles regulated?

by checkpoints that control the cell phases; regulators include

cyclins; cdks; & tumor suppressors.

Q0472:what's included in mitosis?

PMAT; this is the shortest phase.

Q0473:what's included in interphase?

G1; S ; G2

Q0474:what's Go? Hint: it's not that lame movie.

it's where permanent cells stay if you refrain from dropping

acid. neurons; skeletal mm; RBCs; cardiac mm.

Q0475:what are stable cells?

although they are compliant w/their Prosac tx; they are also

capable of entering G1 if stimulated; otherwise they'll stay in

G1; hepatocytes; lymphocytes

Q0476:what are labile cells?

they never Go; they are always movin' rapidly; though;

marrow; gut epithelium; hair

Q0477:What takes place in the rough ER?

synthesis of exported secretory proteins & N-linked

oligosaccharide addition (eg goblet cells & plasma cells are rich

w/rough ER).

Q0478:What tkaes place in the smooth ER?

site of steriod synthesis & detox.

Q0479:What does the golgi do?

processing & packaging of proteins & lipids from ER to

plasma membrane; modifies N-oligosaccharides on asparagine;

adds O-oligisaccharides to serine & threonine; adds mannose-

6-P; assembles & sulfates proteoglycans & tyrosine.

Q0480:What is I-cell disease?

when mannose-6-P addition by the golgi doesn't target

lysosome proteins to lysosome; coarse face; clouded corneas;

restricted jiont movement; high plasma lysosomal enzymes;

fatal in childhood.

Q0481:What is COPI?

vesicular trafficking protein; golgi -> ER (retrograde).

Q0482:What is COPII?

vesicular trafficking protein; RER -> cis-golgi (anterograde).

Q0483:What is clathrin?

vesicular trafficking protein; trans-golgi -> lysosomes; plasma

membrane -> endosomes.

Q0484:What are microtubules?

polymerized dimers of alpha/beta-tubulin; 2GTP

bound/dimer; part of flagella; cilia; & spindles.

Q0485:Name 5 drugs that act on microtubules?

mebendazole; taxol; griseofulvin; vincristine; colchicine.

Q0486:What is Chediak-Higashi syndrome?

microtubule polymerization defect.

Q0487:What are cilia made of?

microtubule doublets (9 +2)linked by dynein ATPase.

Q0488:What is Kartagener's syndrome?

defective dynein resulting in defective cilia.

Q0489:What is the plasma membrane made of?

cholesterol; phospholipids; sphingolipids; glycolipids;

proteins.

Q0490:What is phosphatidylcholine(aka lecithin)?

component of RBC membrane; myelin; bile; & surfactant;

esterfies cholesterol (eg LCAT).

Q0491:Name 2 drugs that inhibit the sodium pump?

ouabain binds K+ site; cardiac glycosides inhibit

Na+/K+ATPase.

Q0492:Name the 4 types of collagen.

type 1= bone; skin; tendon; cornea; type II= catilage; type III

= reticulin; type VI= basement membrane.

Q0493:What cells make collagen?

fibroblasts.

Q0494:How is collagen made?

preprocollagen synthesized in RER-> hydroxylation (req

Vitamin C)-> glycosylation in golgi & synthesis of

procollagen; exocytosis; proteolysis into tropocollagen;

crosslinking forms collagen fibrils.

Q0495:What is Ehlers-Danlos syndrome?

defective collagen synthesis; hyperextendible skin; bruising;

hypermobile joints; assoc w/berry aneurysms; inherited.

Q0496:What is osteogenesis imperfecta?

abnormal type I collagen synthesis; autosomal dominant;

fractures; blue sclerae; hearing loss; dental problems.

Q0497:What is Marfan's syndrome?

defective fibrillin.

Q0498:What is elastin made of?

non-hydroxylated proline & lysine; elastin= tropoelastin +

fibrillin scaffolding; elastase allows relaxed form; alpha1-

antitrypsin inhibits elastase.

Q0499:What happens in the mitochondria?

beta-oxidation; acetyl-CoA production; Kreb's cycle.

Q0500:What happens in the cytoplasm?

glycolysis; fatty acid synthesis; TTP shunt; protein synthesis

(RER); steroid synthesis (SER).

Q0501:What happens in both the mitochondria & the

cytoplasm?

gluconeogenesis (hepatocytes); urea cycle; heme

Q0502:What is S-adenosyl-methionine (aka SAM)?

ATP + methionine; transfers methyl units; relies on B12.

Q0503:What is NADPH?

electron acceptor used in anabolic processes (eg steroid

synthesis); respiratory burst; & P-450; comes from the TPP

shunt.

Q0504:What is chronic granulomatous disease?

deficit of NADPH oxidase (makes bleach out of O2);

neutrophils can't kill bugs

Q0505:What blood problem is commonly assoc. w/a

glycolytic enzyme deficiency?

hemolytic anemia b/c RBC's rely on glycolysis for energy.

Q0506:What is the pyruvate dehydrogenous complex?

the enzyme + vitamins B1;2;3;5; + lipoic acid; makes

pyruvate into acetyl-CoA; activated by excercise.

Q0507:What happens when you have a pyruvate

dehydrogenase deficiency?

lactic acidosis; neurologic defects; tx w/ketogenic nutrients.

Q0508:How many ATP does 1 NADH make per turn?

Q0509:How many ATP does 1 FADH2 make per turn?

Q0510:Name 8 ox-phos poisons.

rotenone; CN-; antimysin A; CO (e- transport inhibitors);

oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin

(uncouplers).

Q0511:What happens when you have a glucose-6-P

deficiency?

cannot generate G6PD that is required to reduce glutathionine

that detoxifies the free rads & peroxides; RBC's are especially

susceptible to oxidizing agents & will form hemoglobin

precipitates (Heinz bodies); Blacks; X-linked recessive.

Q0512:What happens when you have an aldolase B

deficiency?

recessive; fructose accumulation; inhibition of glycogenolysis

& gluconeogenesis; hypoglycemia; jaundice; cirrhosis;

vomiting.

Q0513:What is essential fructosuria?

deficient fructokinase; benign.

Q0514:What is galactosemia?

autosomal recessive; absence of galactose-1-P

uridyltransferase; accumulation of toxins (eg galactitol);

cataracts ; hepatosplenomegaly; mental retardation

Q0515:Name the essential aminoacids;Hint: PriVaTe TIM

phe; val; thr; trp; ile; met; his; arg; leu; lys

Q0516:What is hyperammonemia?

can be acquired (eg liver damage) or hereditary (eg ornithine

transcarbamoylase def); excess NH4+ -> inhibition of Kreb's

cycle; tremor; slurring; vomiting; cerebral edema; blurred

vision; somnolence.

Q0517:Why do we need insulin?

allows entrance of glucose into adipose & muscle cells.

Q0518:What does insulin inhibit?

glucagon release by alpha pancreas cells.

Q0519:What does insulin do?

increases: glucose transport; glycogen synthesis/storage; TG

synthesis/storage;Na+ retention; protein synthesis (muscles).

Q0520:What cells don't require glucose? Hint: BRICK L

brain; RBCs; intestine; cornea; kidney; liver.

Q0521:What role does adrenaline (aka epinephrine) play in

glycogenensis & glycogenolysis?

glycogenesis = (-);glycogenolysis = (+)for both muscle & liver

glycogen stores.

Q0522:What's the difference in glycogen response for muscle

vs liver?

muscle metabolizes glucose fast; the liver acts to maintain

blood sugar levels.

Q0523:How do you synthesize fat?

acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetyl-

CoA + biotin (cytoplasm)-> malonyl CoA-> FA

Q0524:How do you burn fat?

FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle

(matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA

groups.

Q0525:What are ketone bodies?

FA + aminoacids in the liver -> acetoacetate + beta-

hydroxybutyrate. these products can be used in leiu of

glucose during fasting & diabetes for the brain & muscle;

fruity breath.

Q0526:How do you make cholesterol?

HMG-CoA reductase is the rate limiting step; converts

HMG-CoA to mevalonate; most cholesterol gets esterfied by

Q0527:What drug inhibits cholesterol synthesis?

lovestatin inhibits HMG-CoA reductase.

Q0528:What are the essential fatty acids?

linoeic & linolenic acid. eicosanoids rely on these babies!

Q0529:What does pancreatic lipase do?

degrades TG in small intestine.

Q0530:What does lipoprotein lipase do?

degrades TG in chylomicrons & VLDLs.

Q0531:What does hepatic TG lipase do?

degrades TG in IDL.

Q0532:What does hormone sensitive lipase do?

degrades TG in adipocytes.

Q0533:What does LCAT do?

esterfies cholesterol.

Q0534:What does CEPT do?

transfers cholesterol esters to other lipoproteins.

Q0535:What does A1 do?

activates LCAT.

Q0536:What does B-100 do?

binds to LDL receptor & mediates VLDL secretion.

Q0537:What does CII do?

it's a cofactor for lipoprotein lipase.

Q0538:What does B-48 do?

mediates chylomicron secretion.

Q0539:What does E do?

mediates extra remnant uptake.

Q0540:What are lipopriteins made of?

cholesterol; TG; phospholipids.

Q0541:What do chylomicrons do?

takes TG from intestine to peripheral tissues & cholesterol to

liver.

Q0542:Which lipoproteins do chylomicrons need?

B-48; A;C;E.

Q0543:What does VLDL do?

takes liver TGs to peripheral tissues.

Q0544:Which lipoproteins do VLDLs need?

B-100; C-II; E

Q0545:What does IDL do?

comes from VLDL degradation. takes TGs & cholesterol to

liver to process into LDL.

Q0546:What lipoproteins does IDL need?

B-100; E.

Q0547:What does LDL do?

takes liver cholesterol to peripheral tissues; formed from

VLDL via lipoprotein lipase in peripheral tissue.

Q0548:What lipoproteins does LDL need?

B-100.

Q0549:What does HDL do?

takes peripheral cholesterol to liver; also a storage for apoC &

apoE for chylomicron & VLDL metabolism; secreted by liver

& intestine.

Q0550:How is heme broken down?

heme-> biliverdin-> bilirubin -> liver -> bile.

Q0551:What is heme made of?

2 alpha + 2 beta polypetide subunits.

Q0552:Explain R vs T forms of heme.

T = low O2 affinity; R= high O2 affinity. T unloads!

Q0553:What favors T form over R form heme?

increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2

unloading; shifts curve right.

Q0554:What happens to CO2?

travels as bicarbonate in blood to lungs; binds to globin (not

heme); favors T form of heme.

Q0555:What is methemoglobin?

this is oxidized hemoglobin (Fe3+) that prefers CN- over O2;

push nitrates!

Q0556:What is carboxyhemoglobin?

hemoglobin has a fettish for CO.

Q0557:What are the four irreversible enzymes in glycolysis?

1. hexokinase/glucokinase;2. phosphofructokinase-1;3.

pyruvate kinase;4. pyruvate dehydrogenase

Q0558:What is the rate-limiting step in glycolysis?

Conversion of Fructose-6-phosphate into Fructose-1;6 BP via

phosphofructokinase 1

Q0559:What factor negatively inhibits hexokinase in

glycolysis?

Glucose-6-Phosphate

Q0560:What factors (2) negatively inhibit PFK-1 in

glycolysis?

1. ATP;2. citrate

Q0561:What factors (2) positivcely affect PFK-1 in

glycolysis?

1. AMP;2. fructose-2;6-BP

Q0562:What factors (2) NEGATIVELY inhibit pyruvate

kinase in glycolysis?

1. ATP;2. alanine

Q0563:What factor positively affects pyruvate kinase in

glycolysis?

fructose-1;6 BP

Q0564:What factors (3) negatively inhibit pyruvate

dehydrogenase in glycolysis?

1. ATP;2. NADH;3. acetyl-Coa

Q0565:What enzymes (2) CONVERT D-glucose into

Glucose-6-phosphate in glycolysis?

1. hexokinase;2. gLucokinase (liver only)

Q0566:What enzyme CONVERTS PEP into pyruvate?

pyruvate kinase

Q0567:What enzyme CONVERTS pyruvate into Acetyl-

pyruvate dehydrogenase

Q0568:What enzyme converts Fructose-6-P into Fructose-

1;6-BP?

Phosphofructokinase (rate-limiting step)

Q0569:What glycolytic enzyme deficiencies result in

hemolytic anemia? (7)

1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4.

triosephosphate isomerase;5. phosphate glycerate kinase;6.

enolase;7. pyruvate kinase

Q0570:Do RBCs possess mitochondria?

no: metabolize glucose anaerobically and thus depend solely

on glycolysis

Q0571:Order of enzymes in a phagolysosome that destroy

bacteria in oxygen-dependent respiratory burst?

1. NADPH OXIDASE;2. SOD;3. MYELOPEROXIDASE

Q0572:What enzyme converts O2 into its free radical?

NADPH OXIDASE; using NADPH

Q0573:What enzyme converts an O2 free radical into H2O2?

Q0574:What enzyme converts H2O2 into HOCl free radical

myeloperoxidase; using a chloride anion

Q0575:What enzyme converts GSH into GSSG?

catalase; via oxidation using H2O2

Q0576:What enzyme converts NADPH into NADP+ using

glutathione reductase; resulting in GSH and NADP+

Q0577:What enzyme restores NADPH by converting G6P

into 6-phosphogluconolactone?

Glucose-6-phosphate dehydrogenase

Q0578:A deficiency in what enzyme can cause chronic

granulomatous disease?

NADPH OXIDASE DEFICIENCY --> CGD

Q0579:How many enzymes does the Pyruvate

Dehydrogenase Complex contain?

3 enzymes

Q0580:What are the 5 co-factors for the Pyruvate

Dehydrogenase Complex?

1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic

acid;(First 4 B vitamins plus lipoic acid)

Q0581:From what is PyroPhosphate derived in the PDH

complex?

1. Vitamin B1 (thiamine);2. TPP

Q0582:From what is FAD derived in the PDH complex?

Vitamin B2 (riboflavin)

Q0583:From what is NAD derived in the PDH complex?

Vitamin B3 (niacin)

Q0584:From what is CoA derived in the PDH complex?

Vitamin B5 (pantothenate)

Q0585:What is the overall reaction in the PDH complex?

pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH

Q0586:What three factors activate PDH during exercise?

1. increase in NAD+/NADH ratio;2. increase in ADP ratio;3.

increase in Ca2+

Q0587:PDH complex is similar to what other complex by

having the same cofactors; similar substrate; and similar

action?

PDH is similar to alpha-KG DH complex

Q0588:What enzyme deficiency cause cause lactic acidosis?

PDH complex deficiency from a backup of pyruvate and

alanine

Q0589:Alcoholism with a Vitamin B1 deficiency can also

cause what (besides Wernicke-Korsakoffe)?

PDH deficiency (B1 is a co-factor)

Q0590:What are the findings in PDH complex deficiency?

neurologic deficits

Q0591:What is the treatment for PDH complex deficiency?

1. increase intake of KETOGENIC nutrients (high fat

content);2. increase intake of LEUCINE and LYSINE

Q0592:What four items can pyruvate be converted into?

1. alanine;2. oxaloacetate;3. acetyl-Coa;4. lactate

Q0593:How can OAA be used after it is converted from

pyruvate?

1. replenish TCA cycle;2. gluconeogenesis

Q0594:What enzyme converts pyruvate into alanine?

Q0595:What enzyme converts pyruvate into OAA?

pyruvate carboxylase (using CO2 + ATP)

Q0596:What enzyme converts pyruvate into Acetyl-CoA?

PDH (using NAD+ and releasing CO2)

Q0597:What enzyme converts pyruvate into lactate in the

cytosol?

LDH (using NADH)

Q0598:What is the purpose of the Cori cycle?

Cori cycle transfers excess reducing equivalents from RBCs

and muscle --> liver; allowing muscle to function

anaerobically.

Q0599:In the TCA cycle; what are the products per one

acetyl CoA?

1. 3 NADH;2. 1 FADH2;3. 2 CO2;4. 1 GTP

Q0600:How many ATP are produced from a single acetyl-

Coa in the TCA cycle?

12 ATP/acetyl-Coa in the TCA cycle

Q0601:How many ATP are produced from a single glucose

molecule in the TCA cycle?

24 ATP

Q0602:In the TCA cycle; what are the products per one

glucose molecule?

1. 6 NADH;2. 2 FADH2;3. 4 CO2;4. 2 GTP

Q0603:What enzyme converts pyruvate into Acetyl-Coa?

PDH in glycolysis

Q0604:What three factors inhibit PDH?

1. ATP;2. Acetyl-Coa;3. NADH

Q0605:What factor inhibits Citrate synthase?

Q0606:wWhat enzyme converts Acetyl-CoA + OAA -->

citrate?

citrate synthase in the TCA cycle

Q0607:What enzyme converts Isocitrate into alpha-KG?

Isocitrate dehydrogenase

Q0608:What 2 factors negatively inhibit Isocitrate DH?

1. ATP;2. NADH

Q0609:What factor positively affects Isocitrate DH?

Q0610:What two molecules are released in the conversion of

Isocitrate into alpha-KG?

1. CO2;2. NADH

Q0611:what enzyme converts alpha-KG into Succinyl-CoA

alpha-KG DH

Q0612:What two molecules are released in the conversion of

alpha-KG into Succinyl CoA?

1. CO2;2. NADH

Q0613:What 3 factors negatively inhibit alpha-KG?

1. Succinyl-CoA;2. NADH;3. ATP

Q0614:What 2 molecules are released in the conversion of

Succinyl-CoA --> Succinate?

1. GTP;2. CoA

Q0615:What molecule is released in the conversion of

Succinate --> Fumarate?

Q0616:What molecule is released in the conversion of malate

into OAA?

Q0617:1 NADH yields how many ATP?

3 ATP per 1 NADH

Q0618:1 FADH2 yields how many ATP?

2 ATP per 1 FADH2

Q0619:Name 4 electron transport inhibitors:

1. rotenone;2. antimycin A;3. CN-;4. CO

Q0620:What is the end result of electron transport inhibition?

1. decrease in proton gradient;2. block of ATP synthesis

Q0621:What is an example of a mitochondrial ATPase

inhibitor?

Oligomycin

Q0622:The enzymes for gluconeogenesis are located in what

organs only?

1. liver;2. kidney;3. intestinal epithelium

Q0623:Can muscle participate in gluconeogenesis?

Q0624:The pentose phosphate pathway (HMP Shunt)

produces [;] from G6P for nucleotide synthesis

ribose-5-P

Q0625:The Pentose Phosphate Pathway (HMP Shunt)

produces [;] from [;] for FA and steroid biosynthesis and for

maintaining reduced glutathione inside RBCs.

NADPH from NADP+

Q0626:All rxns in the HMP Shunt ocur in the [;].

cytoplasm

Q0627:[;] ATP is used or produced in the HMP Shunt.

Q0628:What are the organs involved in the HMP Shunt

(Pentose Phosphate Pathway)?

1. lactating mammary glands;2. liver;3. adrenal cortex;4. all

sites of FA or steroid synthesis

Q0629:[;] is the rate-limiting enzyme in the HMP shunt

Q0630:Hemolytic anemia is caused by a decrease in [;] in

RBCs due to poor RBC defense against oxidizing agents.

Q0631:What are the oxidizing agents involved in hemolytic

anemia due to a G6PD deficiency?

1. fava beans;2. sulfonamide;3. primaquine;4. Anti-TB drugs

Q0632:What are Heinz bodies?

altered H.emoglobin precipitates within RBCs

Q0633:What is the inheritance pattern of G6PDH deficiency?

X-linked recessive

Q0634:Glucose-6-Phosphate DH converts G6P and NADP+

into what?

1. 6-PG;2. NADPH

Q0635:Glutathion reductase converts NADPH and oxidized

GS-SG into what?

1. NADP+;2. 2 GSH (reduced)

Q0636:Hydrogen peroxide reacts with what to produc GS-SG

(oxidized) + 2 H2O?

2 GSH (reduced)

Q0637:What enzyme is associated with Essential fructosuria?

Fructokinase

Q0638:What enzyme is associated with Fructose intolerance?

Aldolase B

Q0639:What is the end result of Fructose intolerance?

1. Fructose-1-phosphate accumulates;2. DECREASE in

available phosphate;3. INHIBITION of

GLYCOGENOLYSIS and GLUCONEOGENSIS

Q0640:What are the symptoms of hereditary aldolase B

deficiency (Fructose intolerance)?

1. hypoglycemia;2. jaundice;3. cirrhosis;4. vomiting

Q0641:What is the treatment for Fructose intolerance?

1. DECREASE intake of fructose;2. DECREASE intake of

sucrose (glucose + FRUCTOSE)

Q0642:Aldolase B converts Fructose-1-P into what 2

products?

1. DHAP;2. glyceraldehyde

Q0643:What enzyme converts Glyceraldehyde into

Glyceraldehyde-3-P?

Triose kinase

Q0644:What enzyme converts Galactose-1-P to Glucose-1-P?

Galactose-1-phosphate uridyltransferase

Q0645:Galactosemia is caused by the absence of what

enzyme?

Galactose-1-phosphate uridyl transferase

Q0646:What are the symptoms of galactosemia?

1. cataracts;2. hepatosplenomegaly;3. mental retardation

Q0647:What is the treatment of galactolsemia?

1. EXCLUDE galactose;2. EXCLUDE LACTOSE (galactose

+ glucose) from diet

Q0648:What causes the symptoms of galactosemia?

accumulation of toxic substances (galactitol)

Q0649:What enzyme converts UDP-galactose back into

UDP-glucose?

4-epimerase

Q0650:What is the mnemonic for all essential amino acids?

P.riV.aT.e T.I.M. H.A.L.L.

Q0651:What are the glucogenic/ketogenic essential amino

acids?

1. P.henylalanine;2. I.le;3. T.ryptophan;"Gluco/ketogenic is

the P.I.T.s"

Q0652:What are the Glucogenic essential amino acids?

1. M.ethionine;2. T.hreonine;3. V.aline;4. A.rginine;5.

H.istidine;"MTV? AH!"

Q0653:What essential amino acids are required during growth?

1. Arginine;2. Histidine;both increase GH

Q0654:What basic amino acid has no net charge at body pH?

Histidine

Q0655:What is the most basic AA?

Arginine

Q0656:What 2 amino acids are found in histones?

1. Arginine;2. Lysine;(both have an extra NH3 group)

Q0657:What is formed in the conversion of glutamate -->

alpha-KG?

Q0658:The Urea Cycle degrades [;] into amino groups.

amino acids

Q0659:What accounts for 90% of nitrogen in the urine?

Urea Cycle

Q0660:In what organ does the Urea Cycle occur?

Q0661:In what organelle does carbamoyl phosphate

incorporation occur?

mitochondria

Q0662:Where do the remaining steps of the Urea Cycle occur;

besides the mitochondria?

cytosol

Q0663:What is released in the conversion of Arginine -->

Ornithine?

Q0664:Tryptophan is used to form what 3 things?

1. Niacin;2. Serotonin;3. Melatonin

Q0665:Glycine is used to form what?

glycine --> porphyrin --> heme

Q0666:Arginine is used to form what?

1. Creatine;2. Urea;3. Nitric oxide

Q0667:In PKU; what constituents(2) are deficient?

1. phenylalanine hydroxylase;2. tetrahydrobiopterin cofactor

Q0668:What are the findings (5) in PKU?

1. MR;2. growth retardation;3. fair skin;4. eczema;5. musty

body odor

Q0669:What is the R(x) for PKU?

1. DECREASE Phe;2. INCREASE Tyr in diet

Q0670:What are the 3 phenyllactones that accumulate in

1. phenylacetate;2. phenyllactate;3. phenylpyruvate

Q0671:What is the incidence of PKU?

1/10;000

Q0672:What enzyme converts Phe --> Tyr?

Phenylalanine hydroxylase

Q0673:What enzyme converts DHB --> THB and restores

NADP+?

dihydropterin reductase

Q0674:What are the 2 possible causes of albinism?

1. deficiency of TYROSINASE (inability to synthesize

malanin from tyrosine);2. Defective tyrosine transporters

(DECREASE amounts of tyrosine and thus melanin)

Q0675:[;] can result from a lack of migration of neural crest

Albinism

Q0676:Full-term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has a musty odor.

What is the D(x)?

Q0677:Stressed executive comes home from work; consumes

7 or 8 martinis in rapid succession before dinner; and becomes

hypoglycemic. What is the mechanism?

NADH increase prevents gluconeogenesis by shunting

pyruvate and OAA to lactate and malate.

Q0678:2-year-old girl has an increase in abdominal girth;

failure to thrive; and skin and hair depigmentation. What is the

Kwashiorkor

Q0679:Alcoholic develops a rash; diarrhea; and altered mental

status. What is the vitamin deficiency?

Vitamin B3 (pellagra)

Q0680:51-year-old man has black spots in his sclera and has

noted that his urine turns black uon standing. What is the

Akaptonuria

Q0681:25-year-old male complains of severe chest pain and

has xanthomas of his Achilles tendon. What is the disease; and

where is the defect?

Familial hypercholesterolemia; LDL receptor.

Q0682:What is the definition of UNAMBIGUOUS when

describing the genetic code?

each codon specifies only 1 AA

Q0683:What is the definition of Degenerate when describing

the genetic code?

more than 1 codon may code for the same AA

Q0684:Why organism does NOT have a commaless;

nonoverlapping genetic code?

viruses

Q0685:What are the EXCEPTIONS to a universal genetic

1. mitochondria;2. archaeobacteria;3. Mycoplasma;4. yeasts

(some)

Q0686:[;] makes an RNA primer on which DNA polymerase

III can initiate replication in PROKARYOTIC DNA

replication.

Primase

Q0687:[;] degrades the RNA primer in PROKARYOTIC

DNA replication.

DNA polymerase I

Q0688:DNA polymerase III has [;] synthesis and proofreads

with [;] exonuclease

5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III

for PROKARYOTES)

Q0689:In PROKARYOTIC DNA replication; DNA

polymerase I excises the RNA primer with a [;] exonuclease

5' --> 3'

Q0690:Where does replication begin for Eurkaryotic DNA

polymerases?

consensus sequences of AT base pairs.

Q0691:What is the function of Eukaryotic DNA polymerase

alpha?

synthesize RNA PRIMERS

LEADING-strand DNA

gamma?

LAGGING-strand DNA

delta?

MITOCHONDRIAL DNA

epsilon?

DNA repair

Q0696:X-rays can damage DNA; and a repair defect can cause

ataxia-telangiectasia

Q0697:Radiation can damage DNA; and a repair defect can

cause what?

Bloom's syndrome

Q0698:Cross-linking agents can damage DNA; and a repair

defect can cause what?

Fanconi's anemia

Q0699:DNA; RNA; and protein are all synthesized in what

direction?

5' --> 3'

Q0700:AA's are linked [;] to [;]

N --> C

Q0701:What are the types of RNA polymerases for

EUKARYOTES?

1. RNA POLYMERASE I;2. RNA POLYMERASE II;3.

RNA POLYMERASE III

Q0702:Do RNA polymerases have proofreading function?

Q0703:Alpha-amantin inhibits which RNA polymerase?

RNA polymerase II

Q0704:Where does RNA polymerase II bind?

promotor site of DNA

Q0705:In Prokaryotes; does RNA polymerase make all 3

kinds of RNA?

Q0706:What binds to a PROMOTOR site?

1. RNA polymerase;2. transcription factors;(UPSTREAM

FROM THE GENE)

Q0707:What binds to an ENHANCER site?

transcription factors

Q0708:What binds to an OPERATOR?

repressors (a repressive operator)

Q0709:Only [;] RNA is transported out of the nucleus

processed

Q0710:The [;] the Km; the higher the affinity.

Q0711:The S phase of the cell cycle involves what?

Synthesis of DNA

Q0712:The G0 phase in the cell cycle is a quiescent [;] phase

G1 phase

Q0713:In the cell cycle; [;] is the shortest phase

mitosis

Q0714:Most cells are in what phase?

Q0715:RER does what 2 things?f

1. synthesis of secretory (exported) proteins;2. N-linked

oligosaccharide addition to many proteins

Q0716:What are the major functions of the Golgi?

1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS O-

oligosaccharides to serine and threOnine;3. sulfation of sugars

on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of

mannose-6-phosphate to lysosomal proteins; which targets

the protein to the lysosome.

Q0717:What are the symptoms of I-cell disease?

1. coarse facial features;2. restricted joint movement

Q0718:What are the 3 key features of microtubules?

1. helical;2. alpha + beta tubulin dimers (2 GTP bound

each);3. forms flagella; cilia; and mitotic spindles

Q0719:What are 5 drugs that act on microtubules?

1. Mebendazole/thiabendazole;2. Taxol;3. Griseofulvin;4.

Vincristine/vinblastine;5. Colchicine

Q0720:Chediak-Higashi syndrome is due to a microtubule

polymerization defect; resulting in a DECREASE in [;]

phagocytosis

Q0721:What are the 2 key features of Cilia?

1. 9 + 2 arrangment of microtubules (9 doublets);2. doublets

linked by Dynein; an ATPase

Q0722:Kartagener's syndrome is due to a dynein arm defect;

resulting in [;] cilia.

immotile cilia

Q0723:What 2 components in the plasma cell membrane can

INCREASE the melting temperature?

1. cholestrol;2. long saturated fatty acids

Q0724:Name 5 functions of Phosphatidylcholine:

1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl

Phosphatidyl Choline);5. esterification of cholesterol (LCAT)

Q0725:Ouabain INHIBITS the Na+/K+ pump by binding to

K+ site

Q0726:What is the most abundant protein in the human

collagen

Q0727:What are the components of Type I collagen?

1. B.one;2. tendon;3. skin;4. dentin;5. fascia;6. cornea;7. late-

wound repair

Q0728:What are the components of Type II collagen?

1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous

body;3. nucleus pulposus

Q0729:What are the components of Type III collagen?

1. R.eticulin;2. skin;3. blood vessels;4. uterus;5. fetal tissue;6.

granulation tissue

Q0730:What are the components of Type IV collagen?

1. B.asement membrane;2. basal lamina "Type IV: under the

FLOOR (basement membrane)"

Q0731:What is the component of Type X collagen

epiphyseal plate

Q0732:What is the mnemonic for the first four collagen types

(I-IV)?

"B.e C.ool; R.ead B.ooks"

Q0733:What is the 1st step in collagen synthesis INSIDE

fibroblasts?

collagen alpha chains (PREPROCOLLAGEN) translated on

RER--usually Gly-X-Y polypeptide (X and Y are proline;

hydroxyproline; or hydroxylysine)

Q0734:What is the 2nd step in collagen synthesis INSIDE

fibroblasts?

ER--> hydroxylation of specific proline and lysine residues

(requires vitamin C)

Q0735:What is the 3rd step in collagen synthesis INSIDE

fibroblasts?

Golgi --> glycosylation of pro-alpha-chain lysine residues and

formation of PROCOLLAGEN(triple helix of 3 collagen alpha

chains)

Q0736:What is the 4th step in collagen synthesis INSIDE

fibroblasts?

PROCOLLAGEN molecules are exocytosed into the

extracellular space

Q0737:What is the 5th step in collagen synthesis OUTSIDE

fibroblasts?

PROCOLLAGEN peptidases cleave terminal regionals of

PROCOLLAGEN; transforming PROCOLLAGEN into

insoluble TROPOCOLLAGEN

Q0738:What is the 6th and last step in colagen synthesis

OUTSIDE fibroblasts?

staggered TROPOCOLLAGEN molecules are reinforced by

covalent lysine-hydroxylysine cross-linkage (by lysyl

oxidase) to make COLLAGEN FIBRILS

Q0739:What are the 8 major points concerning Ehlers-Danlos

syndrome?

1. faulty collagen synthesis;2. hyper-extensible skin;3. easy

bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6.

type III collagen (reticulin: blood vessels; skin);7. mitral valve

prolapse;8. CAN'T make COLLAGEN FIBRILS from

TROPOCOLLAGEN!

Q0740:What are the 9 major points concerning

OSTEOGENESIS IMPERFECTA?

1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty

collagen synthesis;3. brittle bone disease;4. translucency of

CT over choroid (blue sclerae);5. hearing loss: abnormal

middle ear bones;6. lack of dentition;7. Type II OI: fatal;8.

Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN

from PREPROCOLLAGEN

Q0741:What three metabolic processes occur in the

mitochondria?

1. B.eta-oxidation;2. A.cetyl-CoA production;3. K.rebs cycle

Q0742:What five metabolic processes occur in the

cytoplasm?

1. glycolysis;2. FA synthesis;3. protein synthesis;4. steroid

synthesis;5. HMP shunt

Q0743:What 2 metabolic processes occur in BOTH the

mitochondria and cytoplasm?

1. H.eme synthesis;2. U.rea cycle;3.

G.luconeogenesis;"H.U.G. both the mitochondria and

cytoplasm for their metabolism."

Q0744:A deficiency of what enzyme causes MILD

galactosemia?

Galactokinase

Q0745:A deficiency of what enzyme causes SEVERE

galactosemia?

Q0746:Galactose-1-phosphate --> Glucose-1-phosphate by

what enzyme?

Q0747:A deficiency of what enzyme causes Von Gierke's

disease?

Glucose-6-phosphatase

Q0748:Glucose-6-phosphate --> 6-phosphogluconolactone

by what enzyme?

Glucose-6-phosphate dehydrogenase (G6PD)

Q0749:Hemolytic anemia is caused by a deficiency of what

enzyme?

Q0750:Ribulose-5-phosphate --> fructose-6-phosphate by

what enzyme?

transketolase

Q0751:A deficiency of what enzyme causes ESSENTIAL

fructosuria?

fructokinase

Q0752:A deficiency of what enzyme causes fructose

INTOLERANCE?

Aldolase B

Q0753:F1P --> DHAP + Glyceraldehyde. What enzyme?

aldolase B

Q0754:PEP --> pyruvate. What enzyme?

pyruvate kinase

Q0755:Pyruvate --> Acetyl-CoA. What enzyme?

pyruvate dehydrogenase

Q0756:Acetyl-CoA --> Malonyl-CoA. What cofactor?

biotin to tranfer CO2

Q0757:HMG CoA --> mevalonate. What enzyme?

HMG-CoA reductase

Q0758:pyruvate --> OAA. What enzyme?

pyruvate carboxylase

Q0759:OAA --> PEP. What enzyme?

PEP carboxykinase

Q0760:Acetyl-CoA + OAA --> citrate. What enzyme?

citrate synthase

Q0761:alpha-KG --> Succinyl-CoA. What enzyme?

alpha-ketoglutarate dehydrogenase

Q0762:Ornithine + Carbamoyl phosphate --> citrulline. What

enzyme?

ornithine transcarbamylase

Q0763:Aerobic metabolism of glucose --> 38 ATP via [;]

malate shuttle

Q0764:Aerobic metabolism of glucose --> 36 ATP via [;]

G3P shuttle

Q0765:What are 2 activated ACYL carriers?

1. coenzyme A;2. lipoamide

Q0766:What is an activated CO2 carrier?

biotin

Q0767:What is an activated 1-carbon unit carrier?

tetrahydrofolate

Q0768:What is an activated carrier of aldehydes?

Q0769:What is an activated carrier of choline?

CDP-choline

Q0770:ATP + methionine --> SAM. using what cofactor?

Q0771:NADPH used in 3 processes:

1. anabolic processes;2. respiratory burst;3. p-450

Q0772:What enzymes involve NADPH in respiratory burst?

1. NADPH oxidase;2. glutathione reductase;3. Glucose-6-

Phosphate dehydrogenase

Q0773:Glucose -> G6P; an irreversible regulatory step in

glycolysis is catalyzed by which enyzme?

glucokinase/hexokinase

Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible

regulatory step in glycolysis is catalyzed by which enyzme?

Phosphofructokinase (PFK)

Q0775:Phosphoenolpyruvate (PEP)->pyruvate; an

irreversible regulatory step in glycolysis is catalyzed by

which enyzme?

pyruvate kinase

Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step

in the TCA cycle is catalyzed by which enyzme?

citrate synthase

Q0777:a-ketoglutarate -> succinate; an irreversible regulatory

step in the TCA cycle is catalyzed by which enyzme?

a-ketoglutarate dehydrogenase

Q0778:How many ATP are produced from one glucose

molecule in anaerobic glycolysis?

2 ATP produced

Q0779:How many ATP are produced from one glucose

molecule in aerobic metabolism?

38ATP from malate shuttle;36 ATP from Glucose 3

phosphate shuttle

Q0780:What is the product of the hexose monophospate

shunt (HMP)?

NADPH used in anabolic processes (steroid and fatty acid

synthesis) and ribose 5-phosphate for nucleotide synthesis

Q0781:What molecules are universal electron acceptors?

Nicotinamides (NAD; NADP);Flavin nucleotides (FAD)

Q0782:Where is hexokinase found?

ubiquitous

Q0783:What are the kinetic characteristics of hexokinase in

relation to glucose?

high affinity; low capacity

Q0784:What product inhibits hexokinase?

Glucose 6-Phosphate

Q0785:Where does one find glucokinase?

in the liver

Q0786:What are the kinetic characteristics of glucokinase in

relation to glucose?

low affinity; high capacity

Q0787:Where does glycolysis occur in the cell?

Cytoplasm

Q0788:Which enzyme is activated in the fasting state

converting fructose-6-phosphate to fructose 2;6-

bisphosphate?

Q0789:Which enzyme is activated in the fed state converting

fructose-2;6-bisphosphatase to fructose 6-phosphatate?

fructose bisphosphatate-2

Q0790:What molecule is the most potent activator of

phosphofructokinase; converting fructose-6-phosphate to

fructose 1;6-phosphate

Fructose 2;6 BP

Q0791:A deficiency of which glycolytic enzyme is associated

with hemolytic anemia?

pyruvate kinase;G6PDH is not part of glycolysis; it is part of

the HMP shunt

Q0792:What are the only two purely ketogenic amino acids?

Lysine and Leucine

Q0793:What factors increase the activation of the pyruvate

dehydrogenase complex?

Low ATP/ADP ratio (exercise);high NAD/NADH ratio;high

IC [Ca]

Q0794:How many ATP equivalents are needed to generate

glucose from pyruvate?

6 ATP equivalents

Q0795:What are the 4 fates for pyruvate at the end of

glycolysis?

1. Alanine;2. oxaloacetate;3. Acetyl CoA;4. Lactate

Q0796:What is the function of the Cori cycle?

transfers excess reducing equivalents from RBCs and muscle

to the liver; shifts the metabolic burden to the liver

Q0797:What are the steps in the TCA cycle?

Citrate > isocitrate > a-ketoglutarate > succinyl CoA >

succinate > fumate > malate > OAA

Q0798:What cofactors are required for the a-ketoglutarate

dehydrogenase complex?

B1; B2; B3; B5; lipoic acid

Q0799:Which complexes bring protons across the inner

mitochondrial membrane?

Complexes I; III; IV

Q0800:In oxidative phosphorylation; how many ATP are

produced from 1 NADH?

Q0801:In oxidative phosphorylation; how many ATP are

produced from 1 FADH2?

Q0802:What are the three categories of oxidative

phosphorylation poisons?

1. e- transport inhibitors;2. ATPase inhibitors;3. Uncoupling

agents

Q0803:What are the 4 irreversible enzymes of

gluconeogenesis and where are they located?

1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase

(PEPCK; cytosol);3. Fructose 1;6-bisphosphatase

(cytosol);4. Glucose 6-phophotase (ER)

Q0804:What tissues contain the irreversible enzymes of

gluconeogenesis?

liver; kidney; intestinal epithelium;muscle does not contain

G6Ptase and cannot participate in gluconeogenesis

Q0805:Deficiency of key gluconeogenic enzymes causes what

symptoms?

hypoglycemia

Q0806:The HMP shunt occurs in what parts of the body?

lactating mammary glands; liver; adrenal cortex

Q0807:In what part of the cell does the HMP shunt occur?

cytoplasm

Q0808:What enzyme is required for the irreversible reaction

of the HMP shunt producing NADPH?

Q0809:What is the product of the reversible reaction of HMP

shunt?

Ribose-5-phosphate (for nucleotide synthesis) and

Glyceraldehyde 3-phosphate; fructose 6-

phosphate(intermediate of gyloslysis)

Q0810:GLUT2 receptors are found in which cells?

b-cells in the pancreas; Liver; kidney

Q0811:GLUT4 receptors are found in which cells?

Muscles and Fat

Q0812:What is the general function of insulin?

-moves glucose into cells;-inhibits glucagon secretion from a-

cells in pancreas

Q0813:Which organs do not require insulin for glucose

uptake?

Brain;RBCs;Intestine;Cornea;Kidney;Liver

Q0814:What are the anabolic effects of insulin?

increased glucose transport;increased glycogen synthesis and

storage;increased triglyceride synthesis and storage;increased

Na retention;increased protein synthesis

Q0815:What is the role of glycogen in skeletal muscle?

rapidly metabolize glucose during exercise

Q0816:What is the role of glycogen in hepatocytes?

storage depot to maintain blood sugar at appropriate levels.

Q0817:What are the main reactions of

glycogenesis/degradation?

G6P > G1P > UDP-glucose > branched version > limit

dextran > debranched glycogen

Q0818:What are the 4 glycogen storage diseases?

Von Gierke's Dz (Type I);Pompe's Dz (Type II);Cori's Dz

(Type III);McArdle's Dz (Type V)

Q0819:What are the findings of Von Gierke's Dz?

severe fasting hypoglycemia; high glycogen in the liver;

increased blood lactate; hepatomegaly

Q0820:What is the deficient enzyme in Von Gierke's Dz?

Glucose-6-phosphate

Q0821:What are the findings of Pompe's dz?

cardiomegaly and systemic findings leading to early death

Q0822:What is the deficient enzyme in Pompe's Dz?

Lysosomal a-1;4-glucosidase (acid maltase)

Q0823:What are the findings of Cori's disease?

Milder form of Van Gierke's (Type I) with normal blood

lactate levels

Q0824:What is the deficient enzyme in Cori's Dz?

debranching enzyme (a-1;6-glucosidase

Q0825:What are the findings of McArdle's dz (Type V)?

increased glycogen in muscle but cannot break it down ->

painful cramps and myoglobinuria with strenuous exercise

Q0826:What is the deficient enzyme in McArdle's Dz?

skeletal muscle phosphorylase

Q0827:A full-term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has a musty odor.

What is the dx?

Q0828:A stressed executive comes home from work;

consumes 7 or 8 martinis in rapid succession before dinner;

and becomes hypoglycemic. What is the mechanism?

Increase in NADH prevents gluconeogenesis by shunting

pyruvate and oxaloacetate to lactate and malate

Q0829:A 2 year-old girl has an increase in abdominal girth;

failure to thrive; and skin and hair depigmentation. What is the

Kwashiorkor

Q0830:Alcoholic develops a rash; diarrhea; and altered mental

status. What is the Vitamin Deficiency?

Vitamin B3 (pellagra)

Q0831:A 51-year-old man has black spots in his sclera and

has noted that his urine turns black upon standing. What is his

Alkaptonuria

Q0832:A 25-year-old male complains of severe chest pain and

has xanthomas of his Achilles tendons. What is the dz and

where is the defect?

Familial hypercholesterolemia; LDL receptor

Q0833:A woman complains of intense muscle cramps and

darkened urine after exercise. What is the dx?

McArdle's Dz

Q0834:Two parents with albinismhave a sone who is normal.

Why is the son not affected?

Locus heterogeneity

Q0835:A 40-year-old man has chronic pancreatitis with

pancreatic insufficiency. What vitamins are likely deficient?

A;D;E;K

Q0836:What are the fat soluble vitamins?

A;D;E;K

Q0837:What two organs contribute most to the absorption of

fat-soluble vitamins?

gut (ileum) and pancreas

Q0838:What dzs can cause fat soluble vitamin deficiencies?

Malabsorption syndromes such as CF; celiac sprue; miner oil

intake can also cause deficiencies

Q0839:Which vitamins are water soluble?

B1; B2;B3;B5;B6;B12;C;Biotin;Folate

Q0840:Which water soluble vitamin does NOT wash out of

the body easily and why?

Vit B12 because it is stored in the liver

Q0841:What are some common symptoms of B-complex

deficiencies?

dermatitis; glossitis; and diarrhea

Q0842:What is another name for Vitamin A?

Retinol

Q0843:A deficiency in Vitamin A causes what symptoms?

night blindness; dry skin

Q0844:What is the function of Vitamin A?

constituent of visual pigments

Q0845:Excess of Vitamin A causes what symptoms?

arthralgias; fatigue; headaches; skin changes; sore throat;

alopecia

Q0846:What is another name for Vitamin B1?

thiamine

Q0847:A deficiency in Vitamin B1 causes what symptoms?

BeriBeri and Wernike-Korsakoff syndrome

Q0848:What is the function of Vitamin B1?

a cofactor for oxidative decarboxylation of a-keto acids and a

cofactor in the HMP shunt

riboflavin

angular stomatitis; Cheilosis; corneal vascularization

Cofactor for oxidation and reduction (e.g; FADH2)

niacin

Pellagra: diarrhea; dermatitis; dementia

Constituent of NAD; NADP (redox rxns); derived from

tryptophan

pantothenate

dermatitis; enteritis; alopecia; adrenal insufficiency

Constituent of CoA and component of FA synthase

Q0858:A deficiency in Vitamin C causes what symptoms?

Scurvy - swollen gums; bruising; anemia; poor wound healing

Q0859:What is the function of Vitamin C?

needed for the hydroxylation of proline and lysine in collagen

synthesis; keeps Fe+2 in a reduced state increaseinf Fe

absorption; cofactor for DA->NE

Q0860:A deficiency in Vitamin A causes what symptoms?

Q0861:What is the function of Vitamin A?

constituent of visual pigments

Q0862:Excess of Vitamin A causes what symptoms?

arthralgias; fatigue; headaches; skin changes; sore throat;

alopecia

thiamine

a cofactor for oxidative decarboxylation of a-keto acids and a

cofactor in the HMP shunt

riboflavin

angular stomatitis; Cheilosis; corneal vascularization

Cofactor for oxidation and reduction (e.g; FADH2)

niacin

Pellagra: diarrhea; dermatitis; dementia

Constituent of NAD; NADP (redox rxns); derived from

tryptophan

pantothenate

dermatitis; enteritis; alopecia; adrenal insufficiency

Constituent of CoA and component of FA synthase

pyridoxine

convulsions; hyperirritability; peripheral neuropathy

converted to pyridoxal phosphate; a cofactor in

transanimation; decarboxylation and heme synthesis

cobalamin

macrocytic; megaloblastic anemia; neurologic symptoms;

glossitis

cofactor in homocysteine methylation and methylmalonyl Co-

A handlining

Q0880:B12 is found in what types of foods?

Only animal products

Q0881:What test is used to detect a B12 deficiency?

Schilling Test

Q0882:What are the three main causes of a B12 deficiency?

Malabsorption; lack of intrinsic factor (pernicious anemia) or

absence of terminal ileum (chron's dz)

Q0883:A deficiency in folic acid causes what symptoms?

macrocytic megaloblastic anemia w/o neuro symptoms (unlike

Q0884:What is the function of Folic acid?

coenzyme for 1-carbon transfers (methylation rxns); needed

for the synthesis of nitrogenous bases in DNA and RNA

Q0885:Supplemental folic acid is given in pregnancy to

prevent what defects?

neural tube

Q0886:What is the folic acid precursor in bacteria?

Q0887:A deficiency in biotin causes what symptoms?

dermatitis; enteritis

Q0888:What is the function of biotin?

cofactor for carboxylation rxns: pyruvate -> oxaloacetate;

Acetyl CoA -> malonyl CoA; Proprionyl CoA ->

methylmalonyl CoA

Q0889:What is another name for Vitamin C?

Ascorbic acid

Q0890:A deficiency in Vitamin C causes what symptoms?

Scurvy - swollen gums; bruising; anemia; poor wound healing

Q0891:What is the function of Vitamin C?

needed for the hydroxylation of proline and lysine in collagen

synthesis; keeps Fe+2 in a reduced state increaseinf Fe

absorption; cofactor for DA->NE

Q0892:A deficiency in Vitamin D causes what symptoms?

Rickets in children and osteomalacia in adults (improper bone

mineralization); hypocalcemic tetany

Q0893:What is the function of Vitamin D?

Increased absorption of Ca and P in the gut

Q0894:What is the mechanism by which Vitamin D

deficiency causes tetany?

less D -> less Ca -> lowering the membrane potential of a cell

-> making it easier to get to threshold for AP

Q0895:Excess of Vitamin D causes what symptoms?

Hypercalcemia; stupor; lossof appetite

Q0896:A deficiency in Vitamin E causes what symptoms?

Increased fragility of erythrocytes; neurodysfunction

Q0897:What is the function of Vitamin E?

Antioxidant: protects erythrocytes from hemolysis

Q0898:A deficiency in Vitamin K causes what symptoms?

Neonatal hemorrhage with increased PT and PTT; but normal

bleeding time (neonates unable to synthesize Vit K)

Q0899:What is the function of Vitamin K?

Catalyzes gamma-carboxylation of glutamic acid residues on

various proteins concerned with clotting; synthesized by

intestinal flora

Q0900:What can cause a Vitamin K deficiency?

braod spectrum antibiotics (killing intestinal flora)

Q0901:What are the Vitamin K dependent clotting factors?

II; VII; IX; X; protein C and S

Q0902:Which drug is a Vitamin K antagonist?

Warfarin

Q0903:A deficiency in zinc causes what symptoms?

delayed wound healing; hypogonadism; decreased adult hair

Q0904:Outline the pathway of ethanol metabolism.

ethanol ->[alcohol dehydrogenase] -> Acetaldehyde -

>[acetaldehyde dehydrogenase]-> acetate

Q0905:What is the limiting reagent in the ethanol metabolism

pathway?

Q0906:What are the pharmacokinetics of alcohol

dehydrogenase?

zero-order

Q0907:Which drug inhibits acetaldehyde dehydrogenase

allowing for the accumulation of acetaldehyde and increasing

hangover symptoms?

Disulfiram (anabuse)

Q0908:Describe the mechainsm for ethanol hypoglycemia in

chronic alcoholics.

Ethanol metabolism -> increased NADH/NAD+ ratio in liver

-> pyruvate diverts to lactate and OAA diverts to malate ->

inhibition of gluconeogenesis

Q0909:Kwashiorkor is malnutrition resulting from what

deficiency?

protein

Q0910:What does a pt with Kwashiorkor look like?

small child with a swollen belly

Q0911:Marasmus is a malnutrition syndrome resulting from

what deficiency?

calories/energy

Q0912:What does a pt with marasmus look like?

small child with tissue and muscle wasting

Q0913:Describe the structure of chromatin.

(-)charged DNA loops choice around nucleosome core to form

a nucleosome bead; H1 ties the nucleosomes together in a

string

Q0914:Which is the only histone that is not in the

nucleosome core?

Q0915:Which form of chromatin is transcriptionally inactive?

Active?

Inactive: heterochromatin Active: Euchromatin

Q0916:Which amino acids are necessary for purine synthesis?

Glycine; Aspartate; Glutamine

Q0917:Which nucleotide bonds are stronger and what is the

consequence of this?

G-C bonds are stronger (3 H-bonds) resulting in a higher

melting temperature

Q0918:In regards to nucleotides; what is transition?

substitution of a purine for a purine or pyrimidine for

pyrimidine

Q0919:In regards to nucleotides; what is transversion?

substituting purine for pyrimidine or vice versa

Q0920:What are the four main features of the genetic code?

unambiguous; degenerate; nonoverlapping; universal

Q0921:What does it mean to say that the genetic code is

degenerate?

more than one codon may code for the same amino acid

Q0922:What is the mechanism of base excision repair?

Glycosylases remove damaged bases; endonuclease cuts DNA

at apyrimidinic site; sugar is removed; gap is filled and

resealed

Q0923:What is the mechanism of mismatch repair?

unmethylated; newly synthesized string is recognized;

mismatched nucleotides are removed; gap is filled and resealed

Q0924:Which DNA repair mechanism is mutated in

hereditary nonpolyposis colon cancer?

mismatch repair

Q0925:What is the mechanism of nonhomologous end joining?

bringing together two ends of DNA fragments

Q0926:What is the direction of DNA/RNA/protein

synthesis?

5' -> 3'

Q0927:How are amino acids joined?

N to C

Q0928:What are the three types of RNA?

mRNA; tRNA; rRNA

Q0929:Which type of RNA is the most abundant?

Q0930:Which type of RNA is the largest?

Q0931:Which type of RNA is the smallest?

Q0932:What is the function of RNA pol-I?

makes rRNA

Q0933:What is the function of RNA pol-II?

Makes mRNA

Q0934:What is the function of RNA pol-III?

makes tRNA

Q0935:What substance; found in death cap mushrooms;

inhibits RNA pol-II?

a-amanitin

Q0936:Which codon codes for methionine; thus initiating

Q0937:What are the three stop codons?

UAA; UAG; UGA

Q0938:Which phase of the cell cycle is the shortest?

Mitosis

Q0939:In which phase is new DNA synthesized?

S phase

Q0940:What type of cells remain in Go and are regenerated

from stem cells?

Permanent cells such as neurons; skeletal and cardiac muscle;

Q0941:What type of cells enter G1 from Go when

stimulated?

Stable cells such as lymphocytes and hepatocytes

Q0942:What type of cells never go to Go and divide rapidly

with a short G1?

Labile cells such as bone marrow; gut epithelium; skin; and

hair follicles

Q0943:What is the function of the rough ER (RER)?

synthesis of secretory (exported) proteins and N-linked

oligosaccharide addition to many proteins

Q0944:What type of cells are rich in RER?

Mucus-secreting goblet cells of the small intestine and

antibody-secreting plasma cells

Q0945:What is the function of Nissl bodies in neurons?

synthesize enzymes (e.g; ChAT) and peptide

neurotransmitters

Q0946:What is the function of the smooth ER (SER)?

site of steroid synthesis and detoxification of drugs and

poisons

Q0947:What type of cells are rich in SER?

liver hepatocytes and steroid hormone-producing cells of the

adrenal cortex

Q0948:What are the 6 main functions of the Golgi apparatus?

taking protwins and lipids from the ER to the

PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On

asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd

mannose-6P to lysosomal proteins (targeting to lysosome); 5.

prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans

Q0949:What is the pathophys of I-cell disease and what are

the consequences?

mannose-6P cannot be added to the lysosomal proteins so

enzymes are secreted out of the cell instead of being targeted

to the lysosome

Q0950:What are the characteristics of I-cell disease?

coarse facial features; clouded corneas; restricted joint

movement; high plasma levels of lysosomal enzymes. Can be

fatal in childhood

Q0951:What are the three main cvesicular trafficking proteins

and where do they go?

1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde;

RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma

membrane->endosomes (receptor mediated endocytosis)

Q0952:In what cellular structures would one find

microtubules?

flagella; cilia; mitotic spindles

Q0953:What are the four main drugs that act on microtubules

and for what dz?

1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (anti-

breast ca); 3. Grisofulvin (antifungal); 4.

Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)

Q0954:What syndrome is caused by a defect in microtubule

polymerization resulting in decreased phagocytosis?

Chediak-Higashi

Q0955:Describe the structure of cilia.

9+2 arrangement of microtubules; doublets linked by dynein

ATPase and allows for the bending of cilia

Q0956:Which protein is responsible for retrograde motion of

cilia? Anterograde?

retrograde = dynein; anterograde = kinesin

Q0957:What is Kartagener's syndrome?

immobile cilia due to a dynein arm defect

Q0958:What are the symptoms of Kartagener's syndrome?

infertility in both males and females; bronchiectasis; recurrent

sinitus (any place where cilia are moving things around)

Q0959:What are the two most abundant components of the

plasma membrane?

cholesterol and phospholipids

Q0960:What is the major component of RBC membranes;

myelin; bile and surfactant?

phosphatidylcholine (lecithin)

Q0961:What is the NA/ K exchange ratio in a Na/K ATPase

3 Na out:2 K in

Q0962:Explain when in the exchange is the Na/K ATPase

pump phosphorylated/dephos?

Phosphorylated to let Na out (ATP->ADP) and

dephosphorylated to let K in

Q0963:What is the most abundant protein in the human

collagen

Q0964:90% of all collagen is of what type?

Type I

Q0965:Type I collagen provides support for which

organs/functions?

Bone; Skin; Tendon; dentin; fascia; cornea; late wound repair

Q0966:Type II collagen provides support for which

organs/functions?

Cartilage; vitreous body; nucleus pulposus

Q0967:Type III collagen provides support for which

organs/functions?

Reticulin: skin; blood vessels; uterus; fetal tissue; granulation

tissue

Q0968:Type IV collagen provides support for which

organs/functions?

Basement membrane or basa lamina

Q0969:What are the four phases of collagen synthesis in the

fibroblasts and where do they take place?

1. synthesis (RER); 2. hydroxylation (ER); 3. glycosylation

(Golgi); 4. exocytosis as procollagen

Q0970:What are the two phases of collagen synthesis that

occur outside of the fibroblasts?

1. proteolytic processing (procollagen ->tropocollagen); 2.

cross-linking by covalent Lys-hydroxylysine = collagen fibrils

Q0971:What stage of collagen synthesis requires Vitamin C?

hydroxylation in the ER

Q0972:What are the three signs of Ehlers-Danlos syndrome?

1. hyperextensible skin; 2. tendency to bleed; 3. hypermobile

joints (faulty collagen synthesis)

Q0973:What type of collagen is most affected by Ehlers-

Danlo syndrome?

Type III (blood vessel instability)

Q0974:What is the most common form of osteogenesis

imperfecta?

AD inheritance with abnl Type I synthesis

Q0975:What are the key clinical features of osteogenesis

imperfecta?

1. multiple fractures from minimal trauma (brittle bone); 2.

blue sclerae (translucency of connective tissue over the

choroid); 3. hearing loss; 4. dental imperfections

Q0976:What may osteogenesis imperfecta be confused with

upon examination?

child abuse

Q0977:For the following cell type; state the

immunohistochemical stain used to see it: connective tissue

Vimentin

immunohistochemical stain used to see it: Muscle

Desmin

immunohistochemical stain used to see it: Epithelial cells

cytokeratin

immunohistochemical stain used to see it: Neuroglia

glial fibrillary acid proteins (GFAP)

immunohistochemical stain used to see it: neurons

neurofilaments

Q0982:In what structures does one find elastin?

lungs; large arteries; elastic ligaments

Q0983:Elastin is rich in which two amino acids?

Proline and lysine

Q0984:Marfan syndrome is caused by a defect in which

component of elastin?

fibrillin

Q0985:Elastase is inhibited in which disease? (Hint: it also

causes early-onset emphysema)

a1-antitrypsin deficiency

Q0986:What syndrome is caused by a defect in microtubule

polymerization resulting in decreased phagocytosis?

Chediak-Higashi

Q0987:Fructose intolerance is a hereditary deficiency of what

enzyme?

Aldolase B

Q0988:What is the pathophys of fructose intolerance?

fructose-1-P accumulates causing decreased available

phosphate resulting in inhibition of glycogenolysis and

gluconeogenesis

Q0989:What is the tx for fructose intolerance?

decrease intake of both fructose and sucrose (glucose and

fructose)

Q0990:Essential fructosuria is a defect in which enzyme?

fructokinase

Q0991:Galactosemia results from the absence in what

enzyme?

galactose-1-phosphate uridyltransferase

Q0992:What is the pattern of inheritance in galactosemia?

Q0993:What are the symptoms of galactosemia?

cataracts; hepatosplenomegaly; mental retardation

Q0994:Lactase deficiency is a hereditary lactose intolerance

due to a loss of what type of enzyme?

Brush border enzyme

Q0995:What demographic is most susceptible to lactase

deficiency and what are the sx?

blacks; Asians; bloating; cramps; osmotic diarrhea

Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys

Q0997:what is the pathophys of hyperammonemia?

excess NH4 depletes a-ketoglutarate; leading to inhibition of

TCA cycle

Q0998:What are the sx of ammonia intoxication?

tremor; slurring of speech; somnolence; vomiting; cerebral

edema; blurring vision

Q0999:What are the three main derivatives of phenylalanine?

Dopamine; NE; Epi

Q1000:What are the three main derivatives of tryptophan?

Niacin; serotonin; melatonin

Q1001:What causes the musty odor of PKU?

disorder of excess aromatic amino acids

Q1002:Variable inheritance of albinism is due to what genetic

mechanism?

locus heterozygosity

Q1003:Albinism is a congential deficiency one of which two

items?

1. Tyrosine (auto. Recess.) or 2. defective tyrosine

transporters

Q1004:All forms of homocystinuria have wha inheritance

pattern?

autosomal recessive

Q1005:What are the sx of homocystinuria?

mental retardation; osteoporosis; tall stature; kyphosis; lens

subluxation; atherosclerosis (stroke and MI)

Q1006:The conversion of methionine to cysteine is dependent

on which two vitamins?

B6 (homocysteine to cystothionine) and B12 (homocysteine

back to Met)

Q1007:Maple syrup urine disease is due to what defect?

Blocked degradation of branced amino acid (Ile; Val; Leu) due

to decreased a-ketoacid dehydrogenase

Q1008:What are the sx of maple syrup urine disease?

CNS defecs; mental retardation and death

Q1009:Adenosine deanimase deficiency can cause what other

major immunologic complication?

Q1010:For the following lysosomal storage dz state (1) main

findings; (2) deficient enzyme; (3)accumulated substrate and

(4) inheritance pattern: Fabry's Dz

1. peripheral neuropathy of hands/feet; CV/renal dz;2. a-

galactosidase A;3. ceramide trihexoside;4. XR

(4) inheritance pattern: Gaucher's Dz

1. hepatosplenomegally; aseptic necrosis of femur; bone

crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3.

glucocerebroside;4. AR;Most common lysosomal storage dz

(4) inheritance pattern: Neimann-Pick

1. progressive neurodegeneration; hepatosplenomegally;

cherry red spot (on macula);2. Sphingomyelinase;3.

Shingomyelin;4. AR

(4) inheritance pattern: Tay-Sachs

1. progressive neurodegeneration; developmental delay;

lysozymes with onion skin;2. Hexosaminidase A;3. GM2

ganglioside;4. AR

(4) inheritance pattern: Krabbe's dz

1. peripheral neuropathy; developmental delay; optic

atrophy;2. B-galactosidase;3. Galactocerebroside;4. AR

(4) inheritance pattern: Metachromic leukodystrophy

1. central and peripheral demyelination with ataxia and

dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR

Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA

to Malonyl CoA requires what cofactor?

Biotin

Q1017:In fatty acid synthesis; what mechanism carries acetyl

CoA across the inner mitochondril membrane into the

cytoplasm?

Citrate shuttle

Q1018:In fatty acid degradation; what mechanism carries acyl

CoA across the inner mitochondrial membrane into the

mitochondria?

carnitine shuttle

Q1019:What is the rate limiting step in fatty acid degradation?

Carnitine shuttle

Q1020:Under what physiological conditions will one see

ketone bodies?

DKA or prolonged starvation

Q1021:The rate limiting step in cholesterol synthesis is

catalyzed by which enzyme?

HMG-CoA reductase

Q1022:What is the classification of the drug Lovastatin?

HMG-CoA reductase inhibitor

Q1023:What are the two essential fatty acids?

Linoeic acid and linolenic acid

Q1024:What is the function of pancreatic lipase?

degradation of TG in sm intestine

Q1025:What is the function of lipoprotein lipase?

degradation of TG circulating in chylomicrons and VLDLs

Q1026:What is the function of Hepatic TG lipase?

degradation of TG remaining in IDL

Q1027:What is the function of hormone-sensitive lipase?

Degradation of TG stored in adipocytes

Q1028:What is the funtion of lecithin-cholesterol

acyltransferase (LCAT)?

catalyzes the esterification of cholesterol

Q1029:what is the function of cholesterol ester transfer

protein (CETP)?

mediated the transfer of cholesterol esters to other lipoprotein

particles

Q1030:What is the role of apolipoprotein A-I?

activates LCAT

Q1031:What is the role of apolipoprotein B-100?

binds to LDL receptor; mediates VLDL secretion

Q1032:What is the role of apolipoprotein C-II?

cofactor for lipoprotein lipase

Q1033:What is the role of apolipoprotein B-48?

mediates chylomicrom secretion

Q1034:What is the role of apolipoprotein E?

Mediates remnant uptake (Extra uptake)

Q1035:What is the function of the following lipoprotein:

Chylomicron

delivers dietary TGs to peripheral tissues and cholesterol to

the liver

Q1036:What apo's are associated with chylomicrons?

B-48; A;C; and E

delivers hepatic TGs to peripheral tissues

Q1038:what apos are associated with VLDL?

B-100; C-II and E

Q1039:What is the function of the following lipoprotein: IDL

Delivers TGs and cholesterol to the liver to be degraded to

Q1040:What apos are associated with IDL?

B-100 and E

Q1041:What is the function of the following lipoprotein: LDL

delivers hepatic cholesterol to peripheral tissues

Q1042:What apos are associated with LDL?

mediates centripital transport of cholesterol (periphery to

liver); repository for apoC and apoE

Q1044:Hypercholesterolemia has which Family type? what is

increased?

Type IIa;Increased LDL

Q1045:Combined hypercholesterolemia has which familial

type? what is increased?

Type IIb;LDL; VLDL both increased

Q1046:Hypertriglyceridemia has which familial type? what is

increased?

Type IV;VLDL increased

Q1047:Type IIa hypercholesterolemia has what

pathophysiology?

decreased number of LDL receptors

Q1048:What metabolic processes occur solely in the

mitochondria?

FA oxidation (b-oxidation); acetyl CoA production; Krebs

Q1049:What metabolic processes occur solely in the

cytoplasm?

glycolysis; FA synthesis; HMP shunt; protein synthesis

(RER); steroid synthesis (SER)

Q1050:What metabolic processes occur in both the

mitochondria and the cytoplasm?

Gluconeogenesis; urea cycle; heme synthesis

Q1051:Regeneration of methionine (and thus S-adenosyl-

methionine/SAM) is dependent on what factor?

Q1052:What three enzymes are associated with respiratory

burst in the phagolysosome?

NADPH oxidase;Superoxide dismutase;Myeloperoxidase

Q1053:What three enzymes are associated with oxidative

burst in the neutrophil?

Catalase/glutathione peroxidase;Glutathione reductase;G6PD

Q1054:Fructose intolerance is an inherent deficiency of what

enzyme?

aldolase B

Q1055:What metabolic processes are inhibited from a fructose

deficiency?

glyogenolysis and gluconeogenesis

Q1056:What are the symptoms of fructose intolerance?

hypoglycemia; jaundice; cirrhosis; vomiting

Q1057:What is the treatment for fructose intolerance?

decrease intake of fructose and sucrose (glucose and fructose)

Q1058:the appearance of fructose in the blood or urine is due

to a defect in what enzyme? What is the px?

fructokinase; the condition in benign and asymptomatic

Q1059:Galactosemia is caused by the absence of what

enzyme?

galactose-1-phosphate uridyltransferase

Q1060:What is the inheritance pattern and sx of galactosemia?

AR; cataracts; hepatosplenomegally; mental retardation

Q1061:Lactase deficiency is due to a loss of the enzyme from

what area of the body?

Brush border

Q1062:What are the symptoms of lactase deficiency?

bloating; cramps; osmotic diarrhea

Q1063:Which are the essential amino acids?

Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His

Q1064:Which two essential amino acids are increased in

histones which bind negatively charged DNA?

Arg; Lys

Q1065:What is the direct effect of excess NH4

(hyperammonemia) on metabolism?

depletes a-ketoglutarate -> inhibition of the TCA cycle

Q1066:What is the treatment for hyperammonenmia?

Arginine

Q1067:What are the signs of ammonia intoxication?

tremor; slurring of speech; somnolence; vomiting; cerebral

edema; blurring of vision

Q1068:What is the fnxn of the urea cycle?

to degrade amino acids into amino groups

Q1069:What are the 8 main players in the urea cycle?

Ornithine; Carbamoyl; Citruline; Aspartate;

Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily

Careless; Crappers Are Also Frivolous About Urination

Q1070:What are the main derivatives of Phenylalanine?

Tyrosine;Dopamine;NE ;EPI

Q1071:What are the main derivatives of Tryptophan?

Niacin (NAD/NADP);Serotonin;Melatonin

Q1072:What are the main derivatives of Histidine?

Histamine

Q1073:What are the main derivatives of Glycine?

Q1074:What are the main derivatives of Arginine?

Creatine;Urea;NO

Q1075:What are the main derivatives of glutamate?

Q1076:What enzyme is decreased in PKU?

phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)

Q1077:What is the treatment for PKU?

Decrease phenylalanine and increase tyrosine

Q1078:Alkaptonuria is caused by a deficiency of what

enzyme?

homogentisic acid oxidase (alkapton bodies cause urine to turn

black when standing)

Q1079:Abinism is a congenital deficiency in what two

factors?

Either tyrosinase or defective tyrosine transporters

Q1080:Albinism exhibits variable inheritance due to what

mechanism?

locus heterozygosity

Q1081:What is the inheritance pattern for all three forms of

homocystinuria?

Q1082:What are the three forms of homocystinuria?

1. cystathionine synthase deficiency;2. decreased affinity of

cystathionine synthase for pyridoxal phosphate;3. methionine

synthase deficiency

Q1083:Cystinuria is a common inherited defect of;

the renal tubular amino acid transporter for cystine; ornithine;

lysine; and arginine

Q1084:What can be a sequellae of excess cystine in the urine?

cystine kidney stones

Q1085:What is the treatment for cystinuria?

acetazolamide (alkalinize the urine)

Q1086:Maple syrup urine disease is caused by a decrease in

which enzyme?

a-ketoacid dehydrogenase

Q1087:Which amino acids canno be degraded in maple syrup

urine disease?

Ile; Leu; Val;I Love Vermont maple syrup

Q1088:What is codominance?

Neither of two alleles is dominant (e.g. blood groups)

Q1089:What is variable expression?

nature and severity of the phenotype varies from 1 individual

to another

Q1090:What is incomplete penetrance?

Not all individuals with a mutant genotype show the mutant

phenotype

Q1091:What is pleiotropy?

1 gene has > 1 effect on an individual's phenotype

Q1092:What is imprinting?

At a single locus; only one allele is active; the other is inactive

(methylation).Differneces in phenotype depend on whether

the mutation is of maternal or paternal origin (e.g. Prader-Willi

= paternal)

Q1093:What is anticipation?

Severity of disease worsens or age of onset of disease is earlier

in succeeding generations (e.g. Huntington's)

Q1094:What is loss of heterozygosity?

If a patient inherits or develops a mutation in a tumor

suppressor gene; the complementary allele must be

deleted/mutated before the cancer develops (NOT true of

oncogenes)

Q1095:What is a dominant negative mutation?

exerts a dominant effect. A heterozygote produces a

nonfunctional altered protein that also prevents the normal

gene product from functioning

Q1096:What is linkage disequilibrium?

tendency for certain alleles at 2 linked loci to occur together

more often than expected by chance. Measured in a

population; not in a family; and often varies in different

populations

Q1097:What is mosacism?

when cells in the body have different genetic makeup

(e.g.lyonization--random X inactivation in females)

Q1098:What is locus heterogeneity?

Mutations at different loci can produce the same phenotype

Q1099:If a population is in Hardy-weinberg equilibrium; how

do you measure allele prevalence?

p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is

the prevalence of heterozygotes

Q1100:If a population is in Hardy-weinberg equilibrium; how

do you measure allele prevalence?

p + q = 1

Q1101:What are the 4 assumptions of Hardy-Weinberg law?

1. no mutation; 2. no selection for any of the genotypes at a

locus; 3. Random mating; 4. no migration into or out of a

population

Q1102:In Prader-Willi; whose normally active allele is deleted

(maternal or paternal)?

Paternal (opposite for angelman's)

Q1103:What are some of the features of autosomal dominant

inheritance?

many generations affected; both male and female; often

pleiotropic; present after puberty

Q1104:What are some of the features of autosomal recessive

inheritance?

25% of offspring from 2 carrier parents affected; due to

enzyme deficiencies; usually only seen in 1 generation; more

severe than AD; presents in childhood

Q1105:What are some of the features of X-linked recessive

inheritance?

Sons of heterozygous mothers have a 50% chance; commonly

more severe in males but heterozygous females may be

affected

Q1106:What are some of the features of X-linked dominant

inheritance?

transmitted through both parents; ALL female offspring of an

affected father will be diseased (either male of female from

mother); hypophosphatemic rickets

Q1107:What are some of the features of mitochondrial

inheritance?

transmitted only through mother; all offspring of affected

mother show disease; Leber's hereditary optic neuropathy

Q1108:Mode of inheritance and major features: APKD

AD; always bilateral; mutation in APKD1 (Chr 16); berry

aneurysms; mitral valve prolapse (juvie form is recessive)

Q1109:Mode of inheritance and major features: familial

hypercholesterolemia

AD; elevated LDL from a defective or absent LDL receptor;

severe atherosclerosis disease at young age; tendon xanthomas

(achilles); may have MI before age 20

Q1110:Mode of inheritance and major features: Marfan's

Syndrome

AD; fibrilin gene mutation = connective tissue disorders; tall;

aortic incomptenece and dissecting aortic aneurysms; floppy

mitral valve

Q1111:Mode of inheritance and major features:

Neurofibromatosis; type 1

AD long arm of chr. 17; café-au-lait spots; neural tumors;

Lisch nodules (pigmented iris hamartomas); pheo's

Neurofibromatosis; type 2

AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene

on chr 22 (type 2 = 22)

Q1113:Mode of inheritance and major features: tuberous

sclerosis

AD; facial lesions (adenoma sebaceum); hypopigmented "ash

leaf spots" on skin; cardiac rhabdomyomas; incomplete

penetrance/variable presentation

Q1114:Mode of inheritance and major features: von Hippel-

Lindau dz (VHL)

AD; hemangioblastomas of the retina/cerebellum/medulla;

50% develop multiple bilateral renal cell carcinomas; deletion

of VHL gene on Chr 3 (three words for Chr 3)

Q1115:Mode of inheritance and major features: Huntington's

AD; triplet repeat disorder on chr 4; depression; progressive

dementia; choreiform movements; caudate atrophy; decreased

levels of GABA and ACh in brain

Q1116:Mode of inheritance and major features: Familial

adenomatus polyposis

AD; progresses to colon cancer unless resected; Deletion on

chr. 5 (5 letters in polyp)

Q1117:Mode of inheritance and major features: Hereditary

spherocytosis

AD; spheroid erythrocytes; hemolytic anemia; increases

MCHC; splenectomy is curative

Achondroplasia

AD; cell-signalling defect of fibroblast growth factor (FGF)

receptor 3; dwarfism (short limbs but head and truck are

normal size); associated with advanced PATERNAL age

Q1119:What gene is defective in cystic fibrosis?

CFTR on chromosome 7

Q1120:What are the typical manifestations of a pt with CF?

recurrent pulmonary infections; infertility in males (absent

vas deferens); fat soluble vitamin deficiencies

Q1121:What is the treatment for CF?

n-acetylcysteine to loosen mucous plugs

Q1122:What are the typical X-linked recessive disorders?

Bruton's agammaglobulinemia; Fragile X; G6PD deficiency;

ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and

B; Fabry's dz; Hunter's syndrome

Q1123:Duchenne's MD is caused by what type of genetic

mutation?

Frame shift leading to deletion of the dystrophin gene

Q1124:What movement is a diagnostic sign of Duchenne's

Gower's maneuver

Q1125:What is the less severe form of duchenne's MD?

Becker's

Q1126:What is the 2nd most common cause of genetic mental

retardation after Down's?

Fragile X syndrome

Q1127:What are the clinical features of Fragile X syndrome?

macro-orchidism; long face with a large jaw; large everted ears;

autism

Q1128:What type of disorder is Fragile X?

Triple repeat (CGG) - may show anticipation

Q1129:What are the trinucleotide repeat diseass?

Huntington's; myotonic dystrophy; Friedreich's ataxia; Fragile

Q1130:What are the three autosomal trisomies and which

chr's are affected?

Down's (21); Edward's (18); Patau (13)

Q1131:What are the prenatal signs of Down's?

decreased a-fetoprotein; increased b-hCG; increased nuchal

translucency

Q1132:Pts with Down's are at risk of developing what

neurological disorder?

early-onset Alzheimer's

Q1133:95% of Down's cases are due to what problem in

meiosis? What is the associated parental "problem"?

meiotic nondisjunction of homologous chromosomes;

associated with advanced maternal age

Q1134:Cri-du-chat is associated with what chromosomal

abnormality?

congenital deletion of short arm of chr 5

Q1135:22q11 syndromes are associted with what

signs/symptoms?

cleft papate; abnormal facies; thymic aplasia (t-cell

deficiency); cardiac defects; hypocalcemia 2' to parathyroid

aplasia; variable presentation as DiGeorge

Q1136:When are the risks for fetal alcohol syndrome the

greatest?

3-8 weeks

Q1137:What is the #1 cause of congenital malformations in

the US?

Fetal Alcohol Syndrome

Q1138:DNA polymerase III vs I

III--5'->3' synthesis; 3'->5' exonuclease (proofread); I--

degrades RNA primer (5'->3' exonuclease); fills in gap

Q1139:nucleotide excision repair vs base excision repair

nuc--releases damaged OLIGOnucleotides (ex; in XP); base--

specific glycosylases recognize and remove damaged BASES

Q1140:alpha-amanitin

poison from a mushroom; inhibits euk RNA pol II (mRNA);

initially GI problems; rapidly results in death

Q1141:different RNAs of the euk RNA polymerases

RNA pol I--rRNA; RNA pol ii--mRNA; RNA pol III--tRNA

Q1142:mRNA stop codons

UGA; UAG; UAA

Q1143:site where negative gene expression regulators bind

operator

Q1144:amino acid binds to which end of tRNA?

3' end (CCA end)

Q1145:I cell dz

failure of addition of mannose-6-phosphate to lysosome

enzymes-->enzymes secreted outside cell; get coarse facial

features; clouded corneas; restricted jnt movement; high

plasma lysosomal enzymes; often fatal in childhood

Q1146:vesicular trafficking protein--COPI-->

retrograde; Golgi->ER

Q1147:vesicular trafficking protein COPII--> ?

anterograde; RER->cis-Golgi

Q1148:vesicular trafficking protein clathrin--> ?

trans-Golig-> lysosome; plasma membrane-> endosomes

Q1149:type III collagen

reticulin; in skin; blood vessels; uterus; fetal tissue;

granulation tissue. Most common type of Ehrlos-Danlers

involves this

Q1150:type IV collagen found where?

basement membrane; basal lamina

Q1151:steps of collagen synthesis

1. synthesis of preprocollagen (rER); 2. hydroxylation (ER;

requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as

procollagen); 5. proteolytic processing (tropocollagen); 6.

crosslinking (lysyl oxidase; collagen fibrils)

Q1152:which type of osteogenesis imperfecta is fatal in utero

or in neonate?

type II

Q1153:vimentin stains?

connective tissue

Q1154:desmin stains?

muscle

Q1155:cytokeratin stains?

epithelial cells

Q1156:all enzymes except 1 of TCA are WHERE and

where/what is the exception?

all but succinate DH are in mitochondrial MATRIX; succinate

DH is in inner mitochondrial membrane (along with ETC)

Q1157:irreversible enzymes in gluconeogenesis (4)

pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP

carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP-

>F6P); G6Pase (er; G6P->glucose)

Q1158:most potent activator of PFK? (rate limiter of

glycolysis)

F2;6BP (overrides inhibition by ATP; citrate)

Q1159:what are the only purely ketogenic amino acids?

lysine; leucine

Q1160:how much ATP produced per acetyl CoA in TCA

cycle?

12 (3/NADH; 2/FADH2; 1/GTP)

Q1161:what is rotenone

fish poison that complexes with NADH DH (complex I of

ETC); NADH accumulates; but can still get electrons into

ETC from FADH2

Q1162:what is antimycin A?

abx that blocks passage of electrons through cytochrome b-c1

complex (ETC)

Q1163:why is cyanide poisonous?

combines with cytochrome oxidase and blocks electrons->O2

in ETC; (CO does this also)

Q1164:what is dinitrophenol (2;4DNP)?

ionophore that uncouples ETC

Q1165:what is the enzyme of the irrerversible/oxidative

reaction of PPP (HMP shunt)?

glucose phosphate DH

Q1166:what is the enzyme of the reversible/nonoxidative

reaction in PPP (HMP shunt)?

transketolase (requires thiamine)

Q1167:essential fructosuria

defect in fructokinase (F->F1P); however; this is benign and

asymptomatic; only get fructose in blood and urine

Q1168:aldolase B deficiency--> ?

(AR) fructose intolerance; F1P accumulates and decreases

available phosphate. This inhibits glycogenolysis;

gluconeogenesis; get hypoglycemia; jaundice; cirrhosis;

vomiting

Q1169:which 5 essential amino acids are glucogenic?

met; thr; val; arg; his;(Argh; This Here Mnemonic is Vile)

Q1170:which essential amino acids are glucogenic and

ketogenic?

Ile; Phe; Trp

Q1171:Phe is precursor for?

tyrosine; thyroxine; DOPA; melanin; DA; NE; Epi

Q1172:Tryptophan is precursor for?

niacin; serotonin; melatonin

Q1173:glycine is precursos for?

porphyrin; (succinyl CoA+ glycine-> ALA; via ALA

synthetase)

Q1174:arginine is precursor for?

creatine; NO; urea

Q1175:glutamate is precursor for?

GABA; your mom

Q1176:cystinuria is inherited defect for renal transport of

which amino acids?

cystine; ornithine; lysine; arginine

Q1177:which GLUT is insulin responsive?

GLUT 4 (adipose; sk mm)

Q1178:which GLUT is in RBCs; brain?

GLUT 1

Q1179:GLUT 2 is where?

beta islet cells; liver; kidney

Q1180:which enzyme affected in a)Pb poisoning b) AIP c)

a)ferrochelatase; ALA dehydrase; b) porphobilinogen

deaminase (formerly known as: uroporphyrinogen I

synthase); c) uroporphyrinogen decarboxylase

Q1181:Full term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has musty odor;WHat

is the diagnosis

Q1182:Stressed executive comes home from work consumes 7

or 8 martinis in rapid succession before dinner and becomes

hypoglycemic;WHat is the mechanism

NADH increase prevents gluconeogenesis by shunting

pyruvate and oxaloacetate to lactate and malate

Q1183:2 year old girl has increase in abdominal girth; failure

to thrive and skin and hair depigmentation - what is the

diagnosis

Kwashiorkor

Q1184:Alcoholic develops rash; diarrhea and altered mental

status;What is the vitamin defficiency

B3 (pellagra)

Q1185:20 year old male presents with idiopathic

hyperbillirubinemia;WHat is the most common cause

Gilberts syndrome

Q1186:51 year old man has black spots on his sclera and has

noted that urine turns black when he is standing

Alkaptonuria

Q1187:25 year old complains of chest pains and has

xanthoma of Achilles tendon;What is his disease and where is

the defect

Familial hypercholesterolemia; lDL receptor

Q1188:Condensed by negatively charged DNA looped twice

around positively charged H2a; H2b; H3 and H4 histones

(nucleosome bead)

Chromatin

Q1189:_ ties nucleosomes together in a string (30 nm fiber)

H1 histone

Q1190:Condensed; transcriptionally inactive chromatin

Heterochromatin

Q1191:Less condensed; transcriptionally active chromatin

Euchromatin

Q1192:Name purines

A; G;PURe As Gold

Q1193:Name pyrimidines

C; T; U;CUT Pye

Q1194:Which nucleotides have two rings?

Purines

Q1195:WHich nucleotides have one ring?

Pyrimidines

Q1196:Which nucleotide has a ketone

guanine

Q1197:Which nucleotide has methyl

thymine

Q1198:Deamination of cytosine makes _

Uracyl

Q1199:Uracil is found in _ ;Thymine is found in _

Uracil - RNA;Thymine - DNA

Q1200:Which bond is stronger GC or AT

GC (3 H bonds); AT is weaker (2 H bonds)

Q1201:If GC content is increased what happens to melting

temperature

Increases

Q1202:Nucleotides are linked by _

3-5 phosphodiesterase bond

Q1203:Substituting purine for purine or pyrimidine for

pyrimidine is called ?

TransItion (identical)

Q1204:Substituting purine for pyrimidine or vice versa

TransVersion (conVersion between types)

Q1205:4 features of genetic code

Unambiguous (each codon for only one amino

acid);Degenerate (more then one codon can code for same

amino acid);COmmaless; nonoverlapping;Universal

Q1206:Name type of mutation - same amino acid; often base

change in 3d position of codon tRNA wobble)

Silent mutation

Q1207:Name type of mutation - changed amino acid

(conservative - new amino acid is similar in chemical

structure)

Missence mutation

Q1208:Name type of mutation - change resulting in early stop

Nonsense mutation

Q1209:Name type of mutation - change resulting in

misreading of all nucleotides downstream; usually resulting in

a truncated protein

Frameshift mutation

Q1210:In prokaryotic replication; is there single or multiple

origins of replication

Single origin of replication - continuous DNA synthesis on

leading strand and discontinuous (okazaki fragments) on

lagging strand

Q1211:What is the role of primase in prokaryotic replication

Primase makes RNA PRIMER on which DNA polymerase

III can initiate replication

Q1212:Elongates the chain by adding deoxynucleotides to the

3 end until it reaches primer of preceding fragment

DNA polymerase III

Q1213:Name enzyme that degrades RNA primer

5'-3' exonuclease activity of DNA polymerase I

Q1214:Has 5'-3' synthesis and proofreads with 3'-5'

exonuclease

DNA polymerase III

Q1215:Create a nick in the helix to relieve supercoils

DNA topoisomerases

Q1216:Name DNA repair defects

Xeroderma pigmentosum (skin sensitivity to UV

light);Ataxia-telangiectasia (x rays);Blooms syndrome

(radiation);Fanconis anemia (cross linking agents)

Q1217:Defective excision repair such as uvr ABC

endonuclease. Results in inability to repair thymidine dimers;

which form in DNA when exposed to UV light;Associated

with dry skin and with melanoma and other

cancers;Inheritance pattern

Xeroderma pigmentosum;Autosomal recessive

Q1218:In which direction is Dna and RNA synthesized

5'-->3'

Q1219:Chromatin Structure

negatively charged DNA wrapped around a histone (H2A;

H2B; H3; H4); connected by H1;Condensed = hetero-;

inactive;Less condensed = eu-; active

Q1220:Nucleotides

Purines (A; G) large rings;Pyrimidines (C; U; T) small

rings;PURe As Gold;CUT the PY (pie)

Q1221:Eukaryotic DNA polymerases

alpha - replicates lagging strand; synthesizes RNA

primer;beta - repairs DNA;gamma - replicates mitochondrial

DNA;delta - replicates leading strand;epsilon - repairs DNA

Q1222:DNA repair process

endonuclease cleaves strand upstream;exonuclease clease

strand downstream;DNA polymerase Beta fills gap

Q1223:DNA repair defects lead to disease

Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (X-

rays) ;Bloom's syndrome (radiation);Fanconi's anemia

(crosslinking agents)

Q1224:Eukaryotic RNA polymerases

polymerase I - rRNA;polymerase II - mRNA;

snRNPs;polymerase III - tRNA;no proofreading;alpha-

amanitin inhibits poly II

Q1225:Start and Stop Codons

Start;AUG (Are U Going?);Stop;UGA (U Go Away);UAA

(U Are Away);UAG (U Are Gone)

Q1226:Regulation of Gene Expression

Promoter - where RNA polymerase/transcription factors bind

upstream;TATA (25 bp upstream);CAAT (70 bp

upstream);Enchancer - where transcription factors bind to

increase expression

Q1227:RNA processing

1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3'

Polyadenylation;stability; mediates nuclear export;3. Splicing

out introns;for fun?

Q1228:tRNA Structure

75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3'

CCA sequence;chemically modified bases

Q1229:tRNA charging

aminoacyl-tRNA synthetase ;adds 1 aa to 3' end; using 1

ATP;proofreading capability

Q1230:tRNA wobble

allows many codons to match one tRNA with only the first

two bases of it's anticodon

Q1231:PCR

ligate/denature DNA;add premade specific probes;add heat-

stable DNA polymerase;repeat until DNA sequence is

amplified

Q1232:Molecular Biology Techniques

Southern - DNA probe to find DNA;Northern - DNA probe

to find RNA;Western - Ab probe to find

protein;Southwestern - DNA probe for TFs

Q1233:ELISA

labeled Ab/Ag to Ag/Ab in pt sample;used in HIV;Sn = Sp =

Q1234:Inheritance Modes

Auto Dom - structural genes;M/F affected equally;presents

after puberty;Auto Rec - 25% offspring of carriers;enzyme

deficiencies;present in childhood;X-link Rec - 50% sons of

hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of

sick mom;hypophosphatemic rickets;Mitochondrial -

transmitted by mom;all kids may show dz;leber's hereditary

optic neuropathy;mitchondrial myopathies

Q1235:Variable expression

nature and severity of phenotype varies from one pt to

another

Q1236:Incomplete penetrance

Not all individuals with mutant genotype show dz phenotype

Q1237:Pleiotropy

one gene has greater than one effect on phenotype

Q1238:Imprinting

Differences in phenotype depend on whether the mutation is

of maternal or paternal origin;Angelmans - maternal

transmission;Prader-Willi - paternal transmission

Q1239:Anticipation

Severity of disease worsens or age of onset decreases in

successive generations

Q1240:Loss of heterozygosity

if a pt inherits or develops a mutation in a tumor suppressor

gene; the complementary allele must be deleted/mutated

before cancer develops (not true of oncogenes)

Q1241:Dominant negative mutation

exerts a dominant effect because the body cannot produce

enough of the normal gene product with only one functioning

allele or presence of the altered gene product inhibits the

normal product

Q1242:Linkage disequilibrium

two alleles at linked loci occur together more often than

probability would suggest.

Q1243:Hardy Weinberg population genetics

assumes no migration; no mutation; no natural selection; no

mating preferences

Q1244:Down Syndrome

mental and growth retardation;trisomy 21;tested with

karyotyping;1:800;increased risk with maternal age;decreased

AFP in amniotic fluid;polyhydramnios

Q1245:Fragile X

mental retardation;characteristic facial features;large testes;X-

linked;failure to express RNA binding protein

Q1246:Sickle cell anemia

recurrent painful crises;autosplenectomy -> imm

def;autosomal recessive;1 missense mutation in beta

globin;1:400 Af-Am

Q1247:Cystic fibrosis

recurrent pulmonary infections;exocrine pancreas

insufficiency;infertility;autosomal recessive;mutated CFTR

(Cl- channel);1/2000 whites

Q1248:Neurofibromatosis

cafe-au-lait

spots;neurofibromas;pheochromocytomas;autosomal

dominant;signaling molec loss-of-fxn mutations

Q1249:Duchenne's Muscular Dystrophy

muscular weakness and degeneration;X-linked

recessive;dystrophin gene deletion;Dx DNA

test;pseudohypertrophy of calf

Q1250:Osteogenesis Imperfecta

increased bone fx;blue sclera - translucent CT over

choroid;many mutations - abn collagen synth;1:10000

Q1251:Phenylketonuria

autosomal recessive;phenylalanine hydroxylase

deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine

becomes essential;mental retardation;fair skin (decreased

melanin);eczema;musty body odor;decrease phenylalanine in

diet;increase tyrosine in diet

Q1252:Fabry's disease

X-linked recessive;alpha galactosidase deficiency;ceramide

trihexoside accumulation;renal failure;peripheral neuropathy

hands/feet;CV disease

Q1253:Krabbe's disease

Autosomal recessive;Bgalactosidase def;galactocerebroside

accumulation;optic atrophy;peripheral

neuropathy/spasticity;developmental delay

Q1254:Gaucher's disease

glucocerebrosidase def;glucocerebroside

accumulation;hepatosplenomegaly;aseptic necrosis of femoral

head;bone crises;Gaucher's cells (macrophages)

Q1255:Niemann-Pick disease

Autosomal recessive;sphingomyelinase def;sphingomyelin

accum in reticuloendothelial cells/parenchyma;leading to

organomegaly and progressive neurodegeneration;cherry red

spot on macula;No Man PICKs his nose w/ a SPHINGer

Q1256:Tay-Sachs disease

Autosomal recessive;Absence of hexosaminidase A;GM2

ganglioside accumulation;Askenazi Jews (carriers =

1/30);death by age 3;cherry red spot on macula

Q1257:Metachromatic Leukodystrophy

Autosomal recessive;arylsulfatase A deficiency;demyelination

with w/ ataxia; dementia;Cerebroside sulfate in brain; liver;

kidney; PNS

Q1258:Hurler's syndrome

Autosomal recessive;alpha-L-iduronidase deficiency;corneal

clouding;gargoylism;developmental delay;Hurlers (shot put)

do more damage than hunters (arrows)

Q1259:Hunter's syndrome

X-linked recessive;iduronate sulfatase deficiency;mild form of

Hurler's (mild retardation);with aggressive behavior;no corneal

clouding

Q1260:Lineweaver Burke plots

noncompetitive inhibitors change the Vmax (the y-intercept

will increase);competitive inhibitors change the Km (the x-

intercept will increase)

Q1261:Sodium Potassium Pump

BL membrane;moves 3 Na out; 2 K in; uses 1 ATP;inhibitied

by oubain; digoxin

Q1262:Collagen synthesis and structure

hydoxylation of proline/lysine residues in RER requires Vit

C;procollagen exocytosed into ECM;peptidases cleave

terminal portion;self-assembly into collagen fibrils;crosslinked

by lysyl oxydase

Q1263:Ehlers-Danlos Syndrome

faulty collagen synthesis causes;hyperextensible

skin;tendency to bleed;hypermobile joints

Q1264:S-adenosyl methionine

ATP + methionine = SAM;methyl group donor;makes

phosphocreatine;regeneration with B12

Q1265:NAD+/NADPH

NAD+ catabolic electron acceptor;NADPH anabolic electron

donor;product of HMP shunt;makes superoxide;regenerates

GSH;p450

Q1266:Glycolysis: irreversible reactions

glu to G6P;G6P inhibits hexokinase;F6P to

F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg

PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP

upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA

inhib Pyr DeH

Q1267:Pyruvate Dehydrogenase Complex

pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3

enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5

CoA;lipoic acid

Q1268:Pyruvate Dehydrogenase Deficiency

buildup of pyruvate and alanine;reduced to lactate ->

acidosis;seen in alcoholics in B1 deficiency;Rx: high

fat/ketogenic nutrients

Q1269:Cori cycle

shuttles lactate from muscle to liver for regeneration to

pyruvate;allows muscles to fxn anaerobically

Q1270:TCA cycle

12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are

inhib by ATP/NADH;Cindy Is Kind So She's Friendly More

Q1271:Gluconeogenesis: irreversible reactions

Pyr to oxaloacetate;Pyr carb req

ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req

GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes

in liver; kidney; intestine;hypogly with G6Pase def (von

Gierke's)

Q1272:Glucose 6 Phosphate Dehydrogenase Deficiency

rate limiting enzyme of HMP shunt;necessary for RBCs to

produce NADPH for GSH regeneration;loss leads to

hemolytic anemia;triggered w/ oxidizing agents: sulfas;

primaquine; fava beans;Heinz bodies - Hb

precipitates;prevalent in Af-Am;X-linked recessive

Q1273:Fructose intolerance

aldolase B deficiency;all phosphate accum in F1P;inhib

glycogenolysis/gluconeogenesis;hypoglycemia; jaundice;

cirrhosis;Rx: decrease fructose/sucrose

Q1274:Galactose intolerance

galactose-1P uridyltransferase def;accum of toxic

metabolites;cataracts;hepatosplenomegaly;mental

retardation;Rx: decrease galactose/lactose

Q1275:Essential Amino Acids

PVT TIM HALL;phe;val;trp;thr;ile;met;his;arg;leu;lys

Q1276:Urea Cycle

C from CO2 (mitochondria);N from NH4 (mitochondria);N

from aspartate (cytosol)

Q1277:Phenylalanine derivatives

Tyrosine; Dopa; DA; NE; Epi; Melanin; Thyroxine

Q1278:Tryptophan derivatives

Niacin (NAD; NADP);Serotonin;Melatonin

Q1279:Histidine derivatives

Histamine

Q1280:Glycine derivatives

Porphyrin/Heme

Q1281:Arginine derivatives

Creatine;Urea;Nitric Oxide

Q1282:Homocytinuria

defective cystathionine synthase or;defective methionine

synthase;cysteine become essential;mental

retardation;osteoporosis;lens subluxation;tall stature;kyphosis

Q1283:Maple Syrup Urine Disease

alpha ketoacid dehydrogenase def blocked degradation of

branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS

defects; mental retardation; death

Q1284:Adenosine Deaminase Definiciency

SCID;Excess dATP prevents production of other deoxyribose

nucleotides via ribonucleotide reductase;-> lymphopenia

Q1285:Lesch-Nyhan Syndrome

X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT

deficiency -> dec IMP/GMP prod -> inc uric acid

excr;retardation;self-mutilation;aggression;hyperuricemia;

gout; choreoathetosis

Q1286:Fatty Acid Metabolism

Synthesis = cytosol;enters via citrate shuttle;degradation =

mitochondria;enters via carnitine shuttle

Q1287:von Gierke's disease

Glycogen storage disease type I;glucose-6Pase

deficiency;(liver becomes like muscle);severe fasting

hypoglycemia;glycogen accum in liver;Very

Q1288:Pompe's disease

Glycogen storage disease type II (trashes the pump);lysomal

alpha-1;4-glucosidase def;cardiomegaly;early death;Poor

Q1289:Cori's Disease

Glycogen storage disease type III;deficiency of debranching

enzyme;alpha-1;6-glucosidase;Carbohydrate

Q1290:Glycogen storage disease type V

McArdle's disease;muscle glycogen phosphorylase

def;glycogen in musc -> painful cramps;myoglobinuria w/

strenuous exercise;Metabolism

Q1291:Ketone bodies

acetoacetate and betahydroxybutyrate;made in liver from

HMG-CoA;excr in urine (test for acetoacetate);elevated in

starvation/DM ketoacidosis;fruity breath;converted to 2

AcetylCoA in brain

Q1292:Insulin

from pancreatic beta cells;inc glu uptake in

musc/liver/fat;GLUT2 R in beta cells;GLUT4 in

periphery;inhib glucagon from alpha cells;C-peptide cleaved -

> activation

Q1293:Glucagon vs. Insulin

Glucagon phosphorylates;turns OFF glycogen synthase;turns

ON glycogen phosphorylase;Insulin dephosphorylates;turns

ON glycagen synthase;turns OFF glycagen phosphorylase

Q1294:Cholesterol synthesis and esterification

HMG-CoA reductase is the rate limiting enzyme in

synthesis;inhib by Lovastatin ;Esterification via LCAT

Q1295:Chylomicrons

dietary TGs to peripheral tissues; dietary chol to liver;travel

in lymphatics to thoracic duct to blood;excess ->

xanthomas;Apo B48 mediates excretion;Apo CII for

lipoprotein lipase;Apo E mediates liver uptake

Q1296:VLDL

hepatic TGs to periphery;excess causes pancreatitis;apo

B100 mediates secr;apo CII for lipoportein lipase;apo E

mediates liver uptake

Q1297:LDL

produced via VLDL modification;hepatic cholesterol to

periphery;uptake via R-med endocytosis (Apo B100);excess

causes ATH; xanthomas;Bad for you

Q1298:HDL

periphery cholesterol to liver;repository for Apo C/E;Apo A-

1 for LCAT & chol-esters;Good for you

Q1299:Familial Hypercholesterolemia

Increased Cholesterol/LDL;Auto Dom defect in LDL

R;xanthomas;MI before 30y in homozygous pt

Q1300:Familial Hypertriglyceridemia

Increased TGs/VLDL;Hepatic overproduction of VLDL

Q1301:Heme Synthesis

Rate limiting step: glycine + succinyl CoA -> ALA via ALA

synthase;occurs w/in mitochondria;inhibition ->

porphyrias;Pb inhib other enzymes ->

microcytic/hypochromic anemia and porphyria

Q1302:Heme catabolism

scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin

excr in bile;converted to urobilinogen;excreted as urobilin in

Q1303:Methemoglobinemia

Fe in ferric (oxidized) state;low O2 affinity

Q1304:Hb structure/affinity

Cl; H; CO2; DPG; heat favor the T (taut) form over R

(relaxed);causes decreased O2 affinity

Q1305:Vitamin A

Retinol; in retinal pigment;deficiency: night blindness; dry

Q1306:Vitamin B1

Thiamine; cofactor in pyruvate carboxylase ;deficiency:

Beriberi and Wernicke's encephalopathy

Q1307:Vitamin B2

Riboflavin; FAD/FADH2;deficiency: corneal vascularization;

cheilosis

Q1308:Vitamin B3

Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused

by carcinoid syndrome; INH; Hartnup Dz;Diarrhea;

Dermatitis; Dememtia

Q1309:Vitamin B5

Pantothenate -> Coenzyme A;FA synth; Kreb's

Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal

insufficiency

Q1310:Vitamin B6

Pyridoxine;Converted to Pyridoxal Phosphate;cofactor in

transamination (ALT/AST)

Q1311:Biotin

cofactor for carboxylation;1. pyruvate -> oxaloacetate;2.

acetyl CoA -> malonyl CoA;3. proprionyl CoA ->

methylmalonyl CoA

Q1312:Folic Acid

Coenzyme for 1-C transfer;methylation rxns for nitrogenous

bases;most common vitamin deficiency in US: macrocytic;

megaloblastic anemia

Q1313:Vitamin B12

Cobalamin;Cofactor for homocyteine methylation &

methylmalyonyl handling;Stored in liver;deficiency caused by:

malabsorption (sprue; enteritis; diphyllobothrium latum);

pernicious anemia; ileectomy;Dx: Schilling test

Q1314:Vitamin C

Ascorbic Acid;cofactor for hydroxylation of proline/lysine in

collagen;facilitates Fe adsorption by keeping it

reduced;Deficiency: scurvy = swollen gums; bruising; poor

healing

Q1315:Vitamin D

D2 absorbed from gut;D3 formed in skin;25OH D3 storage

form;1;25OH D3 active form;increases Ca/PO4

absorption;deficiency: rickets; osteomalacia; hypoCa

tetany;excess: hyperCa; stupor;caused by sarcoidosis

mphages producing active D3

Q1316:Vitamin E

antioxidant protects RBCs against hemolysis;increased

fragility of RBCs

Q1317:Vitamin K

synthesis of clotting factors II; VII; IX; X and Proteins

C/S;synth'd by intestinal flora;deficiency seen in broad-

spectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal

hemorrhage

Q1318:Ethanol Metabolism

alcohol and acetaldehyde dehydrogenase produce NADH and

acetate;excess NADH shunts pyruvate away from

gluconeogenesis to lactate;leads to hypoglycemia and FA

synth (fatty liver)

Q1319:Where does calcitonin work?

Osteoclast inhibits bone reabsorption

Q1320:What receptor does PTH hook on?

Osteoblast

Q1321:What does PTH releases?

IL-1 Osteoclast activating factor

Q1322:What keeps a check on IL-1?

Testosteron and Estrogen

Q1323:Why do women get osteoporosis?

Menopausal Women; breaking bone down since IL-1 is not

checked

Q1324:What enzyme is in the S.E.R. when you have increase

P-450?

Gamma-glutamyl transferase;- key tests for alcoholics

Q1325:Why does renal dz causes vitamin D deficiency?

Caused by Diabetes Mellitus

no alpha-1-hydroxylase

Q1326:Vitamin D from the store; what happens to it before it

becomes activate?

25-OH D activated in the liver;- 1;25 OH D in kidneys by

alpha-hydroxylase

Q1327:Hypervitaminosis D? What happens?

Increase Calcium (hypercalcemia); more Calcium in urine

causing Stones.

Q1328:Type I Vitamin D is what?

Missing alpah-1-hydroxylase

Q1329:What is wrong with Type II Vitamin D deficiency?

Bad receptors

Q1330:What is vitamin E main fuction?

- Prevent lipid peroxidation of cell membranes;- protect

membrane from breaking down by phospholipid A;-

neutralizes oxidis LDL (makes it less injurious); i.e.

cardioprotective

Q1331:Who gets Vitamine E deficiency?

Cystic Fibrosis Patients

Q1332:Does vitamin E deficiency cause hemolytic anemia?

Yes! Susceptible to membrane damage (radical)

Q1333:Does vitamin E help myelin?

Yes! Problems neurologicly since they disrupt the membranes

in the brain. Spinalcerebellar Dz

Q1334:What vitamin enhances the activity of warfarin?

Vitamin E excess!

Q1335:What changes k2(inactive) to k1?

epoxide reductase ;k1 gamma carboxylates activates factors II;

VII; IX; X;hydroxylates proline and lisine;activates them so

they are fucntional

Q1336:Warfarin does what?

Blocks epoxide reductase; all vitamin K is K2 (inactive)

Q1337:Vitamine K deficiency?

Prolong Antibiotics;Poor Diets;New Borns

Q1338:What amino acids stimulate Growth Hormone (GH)?

Arganine and Histidine(Ornithine)

Q1339:Symptoms of hypocortisolism?

fasting hypoglycemia and fatigue;ACTH low;Corisol Low

Q1340:Central Diabetes Insipidus;Causes?

Car accident

Q1341:Where is it made?

Superoptic/Paraventricular Nucleus of hypothalamus

Q1342:Where is ADH stored?

Vassopressin (ADH) is stored in the posterior hypofisis

Q1343:Signs and Symptoms of SIADH?

-Thrist (polydypsia);- polyuria

Q1344:Mechanisms of polyuria in DM?

Osmotic Diuresis

Q1345:Where is HMG CoA Synthase seen?

Ketogenesis;Acetyl CoA ----> HMG CoA

Q1346:What is involved in ketogenolysis (extrahepatic)?

Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA --

--> Acetyl CoA ----> Citric Acid Cycle

Q1347:What is perceived as fruity odor?

Acetone in the blood;Seen in prolonged fasting

Q1348:What amino acid is used in starvation?

Alanine

Q1349:How long does glycogen storages last when you are

fasting?

24 hours

Q1350:When does protein degradation start?

after 12-24 hours

Q1351:How many days does it take for fat to become the

predominant source of glucose?

1 week is the breaking point

Q1352:When is the highest fat source for glucose? Week?

When are ketones at the highest level?

After the 3rd week

Q1353:G6PDH;Reactant and product

Reactant: Glucose-6-P;Product: 6-phosphogluconate

Q1354:G6PDH;cofactor

NADP;(rxn: NADP ---> NADPH)

Q1355:G6PDH;part of what pathway?

Hexose monophosphate shunt

Q1356:G6PDH;induced by

insulin

Q1357:G6PDH;activated by

NADP (decrease in NADPH/NADP ratio)

Q1358:G6PDH deficiency;inheritence

Q1359:G6PDH;major function

Generate NADPH for anabolic purposes (EG: FA synthesis);

antimicrobial killing and protection of cells from reactive

oxygen species

Q1360:Describe the role of NADPH in protecting against

ROS (particularly in RBCs)

NADPH reduces oxidized Glutathionine (G-S-S-G) back to

its reduced form (2 GSH). GSH allows the enzyme

Glutathionine peroxidase to breakdown H202

Q1361:G6PDH deficiency;3 key features

-immunodeficiency (in severe disease);- Heinz bodies;-

hemolytic anemia

Q1362:G6PDH deficiency;stressors that can acute hemolytic

anemia

-ifn;-drugs (sulfas; chloroquine);-fava beans

Q1363:G6PDH deficiency;Why can this condition lead to

immunodeficiency?

NAPDH oxidase generates bactericidal superoxide. NADPH

deficiency inhibits this function.

Q1364:CGD/NADPH deficiency;How can the diagnosis be

confirmed

a NEGATIVE nitroblue tetrazolium test

Q1365:HMG CoA reductase;location

Q1366:HMG CoA reductase;activated by?

insulin

Q1367:HMG CoA reductase;;enzyme ACTIVITY is

inhibited by

-glucagon;-statins

Q1368:HMG CoA reductase;reaction

HMG-CoA is converted to mevalonate

Q1369:HMG CoA reductase;cholesterol effect on the enzyme

Increased hepatic cholesterol represses expression and

enhances degradation

Q1370:HMG CoA reductase;How does inhibition by statin

drugs decrease cholesterol levels?

Inhibition by statins both decreases de novo synthesis and

enhances hepatic clearence of serum cholesterol by increased

LDLR expression

Q1371:HMG CoA reductase;statins are _________ inhibitors

competitive

Q1372:DHFR;reaction it catalyzes

Folate---->DHF--->THF

Q1373:DHFR;eukaryotic inhibitior

methotrexate

Q1374:DHFR;prokaryotic inhibitors (2)

-Trimethoprim;-pyrimethamine

Q1375:DHFR;Most important downstream consequence of

inhibition?

A block of DHFR function ultimately prevent synthesis of

thymidylate (thymidylate synthase is folate dependent)

Q1376:how can ornithine transcarbamylase deficiency be

distinguished from orotic aciduria

OTCD has hyperammonia and low BUN;Orotic aciduria has a

normal BUN

Q1377:Orotic Aciduria;enzymatic causes

- orotic acid phosphoribosyltransferase deficiency;OR;- OMP

decarboxylase deficiency

Q1378:UDP-Glucuronyl transferase;key reaction

Bilirubin + glucoronide ----> bilirubin-diglucoronide

Q1379:UDP-Glucuronyl transferase;significance in neonates

UDP-Glucuronyl transferase is the last enzyme expressed in

infants. Thus; neonates have increased susceptibility to

jaundice and kernicterus

Q1380:Dubin-Johnson syndrome;characterized by

black pigment in the liver due to impaired excretion of direct

bilirubin

Q1381:Crigler-Najjar syndrome;define

a severe UDP-Glucuronyl transferase deficiency

Q1382:Gilbert Syndrome;define

a benign UDP-Glucuronyl transferase deficiency

Q1383:gamma-glutamyl carboxylase;rxn:

glu -----> gamma gultamic acid

Q1384:gamma-glutamyl carboxylase;function and substrate of

this rxn:

gamma carboxylation of factors II; VII; IX; X and Protein

C&S generates Ca binding sites.

Q1385:gamma-glutamyl carboxylase;dependent on?

Q1386:gamma-glutamyl carboxylase;inhibited by

warfarin and dicoumarol

Q1387:Warfarin;does this drug inhibit in vitro clotting?

NO; warfarin's effect (vit K reductase inhibition) prvents in

vivo clotting by blocking clotting factor synthesis but has no

effect on existant factors.

Q1388:gamma-glutamyl carboxylase;this reaction catalyzes

what type of modification

cotranslational modification of clotting factors

Q1389:Homocysteine methyltranferase;rxn:

homocysteine ---> methionine

Q1390:Homocysteine methyltranferase;cofactors:

-N5-methyl THF;-methylcobalamin (B12)

Q1391:mild homocysteinuria is associated with deficiencies is

what vitamins

folate;B12;B6 (cystathionine synthase rxn)

Q1392:mild homocysteinuria;symptoms

-DVT;-stroke;-atherosclerosis

Q1393:how can B12 deficiency be distinguished from folate

deficiency?

B12 deficiency is associated with methylmalonic aciduria

Q1394:name the 3 "ABC" carboxylases

(ATP; Biotin; Co2);-propionyl-CoA carboxylase;-acetyl-CoA

carboxylase;-pyruvate carboxylase

Q1395:Methylmalonyl-CoA mutase;rxn:

Methylmalonyl-CoA ---> succinyl-CoA

Q1396:Methylmalonyl-CoA mutase;cofactor:

adeonsylcobalamin (B12)

Q1397:Methylmalonyl-CoA mutase;deficiency results in:

Methylmalonylic aciduria and peripheral neuropathy

Q1398:Lesch-Nyhan Syndrome;inheritence:

Q1399:Lesch-Nyhan Syndrome;genetic cause:

HGPRT deficiency

Q1400:Lesch-Nyhan Syndrome;symptoms:

-spastic cerebral palsy;-self-mutilation;-hyperuricemia;-early

Q1401:6-Mercaptopurine is activated by

Q1402:Lesch-Nyhan Syndrome;pathophysiology

Loss of the salvage pathways results in shunting of

Hypoxanthine and guanine to the excretion

pathway;Furthermore; loss of feedback inhibition of PRPP

admidotransferase results in additional purine synthesis;Thus;

HGPRT deficiency leads to crippling excesses of urate

Q1403:HGRPT;rxn:

hypoxanthine/guanine -----> IMP/GMP

Q1404:Branched-chain Ketoacid DH;cofactors:

TPP;Lipoic acid;CoA;FAD;NAD

Q1405:Branched-chain Ketoacid DH;critical in the

metabolism of

Valine;Leucine;Isoleucine

Q1406:Branched-chain Ketoacid DH;associated disease:

maple serup urine disease

Q1407:maple serup urine disease;symptoms:

-urine has a maple odor;-mental retardation;-abnormal muscle

tone;-ketosis;-coma;death

Q1408:name the substances that enter the propionyl-CoA

pathway

(VOMIT);Valine;Odd chain

FA;Methionine;Isoleucine;Threonine

Q1409:Pyruvate DH;cofactors

TPP;Lipoic Acid;CoA;FAD;NAD

Q1410:Pyruvate DH;rxn:

pyruvate------> acetyl CoA

Q1411:Pyruvate DH;deficient in what population

(consequence)

alcoholics due to thiamine deficiency (results in lactic

acidosis)

Q1412:Pyruvate DH;inhibited by

acetyl-CoA

Q1413:PKU;genetic causes

phenylalanine hyxdroxylase

deficiency;OR;tetrahydrobiopterin deficiency

Q1414:Aspartame is contraindicated in what condition

Q1415:PKU;untreated symptoms

-pale skin and white hair;-mental retardation;-loss of motor

control;-musty; mousy odor

Q1416:PKU;-pathophysiology

elevated phenylalanine has a neurotoxic effect

Q1417:Phenylalanine hydroxylase;rxn

phe ---> tyrosine

Q1418:MCAD;function

oxidation of medium chain FA

Q1419:MCAD deficiency;symptoms

-fasting hypoglycemia;- NO KETONES;-C8-10 acyl

carnitines in blood;-DICARBOXYLIC ACIDEMIA

Q1420:Dicarboxylic acidemia is pathognomonic for

MCAD deficiency

Q1421:Topoisomerase II;inhibited by what drug class in

prokaryotes

#NAME?

Q1422:Topoisomerase II;function

relieves positive supercoiling during DNA replication by

introducing negative supercoils

Q1423:Topoisomerase II;target for what drugs in eukaryotes

etoposide;teniposide

Q1424:Excision endonuclease;function

removal of intrastrand thymine dimers

Q1425:Xerderma pigmentosum;defective gene

excision endonuclease

Q1426:Xerderma pigmentosum;symptoms

extreme UV sensitivity;excessive freckling;multiple skin

cancers;corneal ulcerations

Q1427:Carbamoyl-P Synthetase (CPS-I) deficiency

- urea cycle defect;- condition: type I hyperammonemia;-

metabolites accumulated: ammonia; glutamine; alanine

Q1428:Ornithine transcarbamoylase (OTC) deficiency

- urea cycle defect;- condition: type II hyperammonemia;-

metabolites accumulated: ammonia; glutamine; orotate

Q1429:Argininosuccinate synthetase deficiency

- urea cycle defect;- condition: citrullinemia;- metabolites

accumulated: citrulline

Q1430:Argininosuccinate lyase deficiency

- urea cycle defect;- condition: argininosuccinic aciduria;-

metabolites accumulated: argininosuccinate

Q1431:Arginase deficiency

- urea cycle defect;- condition: hyperargininemia;- metabolites

accumulated: arginine

Q1432:Maple Syrup Urine Disease

- AR defect in branched-chain ketoacid dehydrogenase;- high

plasma & urine levels of branched-chain AA (leucine; valine;

isoleucine) and their corresponding alpha-keto acids and

alpha-hydroxyacids;- urine odor of maple syrup or burnt

sugar;- brain damage

Q1433:strictly ketogenic AA

leu; lys;degraded tp acetyl-CoA or acetoacetyl-CoA --> both

converted to ketone bodies

Q1434:both ketogenic + glucogenic AA

ile; phe; tyr; trp

Q1435:strictly glucogenic AA

all others

Q1436:7 metabolic intermediates derived from AA

acetyl-CoA;acetoacetyl-CoA;oxaloacetate;fumarate;succinyl-

CoA;alpha-keto glutarate;propionyl-CoA (converted to

succinyl-CoA)

Q1437:AA that form pyruvate

glycine; alanine; cysteine; serine; threonine; tryptophan

Q1438:AA that form acetyl-CoA

leucine; isoleucine

Q1439:AA that form acetoacetyl-CoA

leucine; lysine;phenylalanine; tryptophan; tyrosine

Q1440:AA that form oxaloacetate

asparagine; aspartate

Q1441:AA that form fumarate

tyrosine; phenylalanine

Q1442:AA that form propionyl-CoA (then converted to

succinyl-CoA)

isoleucine; methionine; threonine; valine

Q1443:AA that form glutamate (then converted to alpha-

ketoglutarate)

proline; arginine; histidine; glutamine

Q1444:propionic aciduria

2/2 deficiency of biotin; propionyl-CoA carboxylase;

holocarboxylase synthase; or the enzyme that covalentloy

attaches biotin to all carboxylases (in last case; additional

organic acids accumulate)

Q1445:methylmalonic aciduria

2/2 deficiency in vitamin B12 or defect in methylmalonyl-

CoA mutase;some pts respond well to megadose of vit B12

Q1446:pyridoxal phosphate

derivative of pyridoxine (vit B6);acts as coenzyme for all

transaminases

Q1447:CPS-1 activation

high protein diet --> glutamate accumulation --> increase in

NAG --> CPS-1 activation

Q1448:arginase found only in

brain; liver; kidney

Q1449:amino groups in muscle

transferred to pyruvate to form alanine --> dumped into

circulation --> picked up by liver; where it is converted back

to pyruvate

Q1450:liver uses pyruvate for

gluconeogenesis

Q1451:liver uses amino groups for

urea synthesis

Q1452:phenylketonuria (PKU)

deficiency in phenylalanine hydroxylase or dihydrobiopterin

reductase;buildup of phenylalanine; phenylpyruvate;

phenylacetate; phenyllactate in blood and urine;**tyrosine

becomes an essential AA**

Q1453:PKU Sx

musty body odor;MR

Q1454:dihydrobiopterin reductase deficiency

PKU + impairment of catecholamine and serotonin synthesis

Q1455:PKU Tx

remove phenylalanine from diet (incl NutraSweet)

Q1456:NutraSweet

dipeptide containing phenylalanine + aspartic acid

Q1457:precursor for tyrosine

phenylalanine

Q1458:sulfur for cysteine synthesis comes from

methionine

Q1459:if phenylalanine deficient in diet

tyrosine becomes essential AA

Q1460:if methionine essential in diet

cysteine becomes essential AA

Q1461:elevated plasma homocysteine is risk factor for

coronary heart disease;independent of risk associated with

elevated cholesterol

Q1462:homocystinuria

large amts. homocystine in urine;acquired or inherited;most

often seen in children with FTT; lens displacement

Q1463:causes of homocystinuria

deficiency in pyridoxine; folate; or vitamin B12;OR;inherited

defect in either cystathionine synthase or methionine

synthase;all above result in accumulation of homocysteine;

which is readily oxidized to its disulfide form; homocystine

Q1464:homocystine

disulfide form of homocysteine

Q1465:cysthathionuria

2/2 deficiency in pyridoxine or from genetic defect in

cystathionase;large amts. cystathionine found in urine + blood

Q1466:Parkinson dz: cause

decreased dopamine in substantia nigra

Q1467:Parkinson prevalence

1% of pop > 55yrs

Q1468:Parkinson Sx

tremors; postural instability; rigidity; bradykinesia

Q1469:Parkinson Tx

L-dopa + carbidopa

Q1470:Carbidopa

decreases extra-CNS effects of L-dopa;selectively inhibits

aromatic acid decarboxylase outside CNS;does not cross BBB

so does not inhibit conversion of L-dopa --> dopamine

Q1471:carcinoid tumors

neoplastic transformation of enterochromaffin cells;secrete

excess serotonin;high levels of 5-HI in urine

Q1472:nitroglycerin and other angina tx

act in part to spontaneously generate nitric oxide

Q1473:porphyria

any abnormality in pathway of heme synthesis;block early in

pathway: intermediates buildup & are excreted in urine;block

late in pathway: excreted in urine + feces; accumulate in skin

Q1474:lead poisoning and heme synthesis

lead poisoning can be considered acquired porphyria b/c

inhibits ALA DEHYDRATASE and HEME SYNTHASE

(FERROCHELATASE)

Q1475:4 broad causes of hyperbilirubinemia

massive hemolysis;block in heme catabolism;bile

obstruction;liver damage;always jaundice

Q1476:anabolism

build stuff (need energy)

Q1477:What a.a. is the smallest?

Glycine

Q1478:What a.a. is involved in gluconeogenesis?

Alanine

Q1479:What a.a. are branched?

Valine;Leucine;Isoleucine;I Saw Lucy and Val(erie) Like syrup

Q1480:What a.a. bends proteins?

Proline

Q1481:What a.a. is converted to tyrosine?

Phenylalanine

Q1482:What is made with Tyrosine? 3 things;

1) Catecholamines (NE; Epi);2) Thyroid T3/T4;3) Melanin

Q1483:What causes Hartnup Dz?

Tryptophan ;tryp up the esophagus

Q1484:What coenzyme is needed to degrade tryptophan?

Niacin

Q1485:What deffect do you see when you have Niacin

defiency?

Pellagra

Q1486:What are the symptoms of pellagra?

Diarrhea;Dermatitis;Dementia

Q1487:What are the basic a.a.?

HAL;Histidine;Alaline;Lysine

Q1488:What two a.a. are acidic?

Aspartate;Glutamate;aspartic acid; glutamic acid

Q1489:What a.a. have OH in htem?

Serine;Threonine

Q1490:Valine is a branched a.a. what happens glutamate is

changed to val?;glutamate ----> valine

Sickle Cell Anemia;Missense mutation;anemia sickle

Q1491:What happens when there is a deletion of

phenylalanine at position 508?

Cystic Fibrosis;Chromosome seven;problem in folding

proteins

Q1492:Why is cysteine important?

Because it produces S-thiol and is the Tx for Acetaminophen

Toxicity;NO+ guanylate cyclase increasing cGMP

Q1493:Why is methionine important?

Makes AUG; SAM;initiate transcription;methylates in SAM

Q1494:WHat is asparagine famous for?

N.glycosylation in E.R. mannose to protein

Q1495:WHat is glutamine used for?

NH3 donor;Amonia

Q1496:WHat a.a. is need in positve nitrogen balance?

Arginine

Q1497:When does positive nitrogen balance occur?

Growth;Pregnancy;Recovery from injury or surgery;Recovery

from Negative Nitrogen Balance

Q1498:When does negative nitrogen balance?

Protein Malnutrition (Kwashiorkor);Starvation

(Marasmus);DM uncontrolled;Infection;Diet Defficient of

essential a.a.

Q1499:What is the enzyme deficiency in Von Gierke's disease

(Type I)?

Glucose-6-phosphatase

Q1500:What is the enzyme deficiency in Pompe's disease

(Type II)?

Lysosomal alpha-1;4-glucosidase

Q1501:What is the enzyme deficiency in Cori's disease (Type

Debranching enzyme alpha-1;6-glucosidase

Q1502:What is the enzyme deficiency in McArdle's disease

(Type V)?

Skeletal muscle glycogen phosphorylase

Q1503:What is the enzyme deficiency in Andersen's disease

(Type IV)?

Glycogen branching enzyme amylo-1;4-1;6-transglucosidase

Q1504:What is the enzyme deficiency in Tarui's disease

(Type VII)?

Skeletal muscle PFK-1

Q1505:What are the findings in Von Gierke's disease (Type I)

Severe fasting hypoglycemia;Increased glycogen in liver;Thin

extremities; chubby facies;Fatty liver;Renal disease;Growth

retardation; delayed puberty

Q1506:What are the findings in Pompe's disease (Type II)

Cardiomegaly;Early death;Normal blood glucose;"Trashes the

pump" (heart; liver; muscle)

Q1507:What are the findings in Cori's disease (Type III) (3)?

Hypoglycemia;Failure to thrive;Hepatomegaly

Q1508:What are the findings in McArdle's disease (Type V)

Increased glycogen in muscle (can't break it down);Paimful

cramps;No rise in lactate w/ exercise

Q1509:What are the findings in Tarui's disease (Type VII)

Like McArdle's;Nausea and vomiting;Acute exacerbation after

high-carb meal;Hyperuricemia and hyperbilirubinemia

Q1510:What are the findings in Andersen's disease (Type IV)

Glycogen with unbranched chains in tissue;Resembles

amylopectin;Failure to thrive;Hepatosplenomegaly

Q1511:How do you treat Von Gierke's disease (Type I)?

Nocturnal glucose; uncooked corn starch

Q1512:What is/are the MAJOR REGULATORY ENZYME

of the citric acid cycle?

Citrate synthase

of glycolysis?

Phosphofructokinase-1

of pyruvate oxidation?

Pyruvate dehydrogenase

Q1515:What is/are the MAJOR REGULATORY ENZYMES

of gluconeogenesis (3)?

Pyruvate carboxylase;Phosphoenolpyruvate

carboxykinase;Fructose-1;6-bisphosphatase

of glycogenesis?

Glycogen synthase

of glycogenolysis?

Glycogen phosphorylase

of the pentose phosphate pathway?

of cholesterol synthesis?

HMG-CoA reductase

of lipogenesis?

Acetyl-CoA carboxylase

Q1521:What are the major ACTIVATORS of

phosphofructokinase-1 (3)?

AMP;Fructose-2;6-bisphosphate (liver);Fructose-1;6-

bisphosphate (muscle)

Q1522:What are the major ACTIVATORS of pyruvate

dehydrogenase (4)?

CoA;NAD;ADP;Pyruvate

Q1523:What is the major ACTIVATOR of pyruvate

carboxylase and phosphoenolpyruvate carboxykinase?

Acetyl-CoA

Q1524:What is the major ACTIVATOR of fructose-1;6-

bisphosphatase?

Q1525:What are the major ACTIVATORS of glycogen

phosphorylase (2)?

cAMP;Ca2+ (muscle)

Q1526:What is the major ACTIVATOR of glucose-6-

phosphate dehydrogenase?

Q1527:What is the major ACTIVATOR of acetyl-CoA

carboxylase

Citrate

Q1528:What are the INHIBITORS of citrate synthase (2)?

ATP;Long-chain acyl-CoA

Q1529:What are the INHIBITORS of phosphofructokinase-1

Citrate (fatty acids; ketone bodies);ATP;cAMP

Q1530:What are the INHIBITORS of pyruvate

dehydrogenase (3)?

Acetyl-CoA;NADH;ATP (fatty acids; ketone bodies)

Q1531:What is the INHIBITOR of pyruvate carboxylase and

phosphoenolpyruvate carboxykinase?

Q1532:What are the INHIBITORS of fructose-1;6-

bisphosphatase (2)?

AMP;Fructose-2;6-bisphosphatase

Q1533:What are the INHIBITORS of glycogen synthase (3)?

Phosphorylase (liver);cAMP (muscle);Ca2+ (muscle)

Q1534:What is the INHIBITOR of glucose-6-phosphate

dehydrogenase?

Q1535:What are the INHIBITORS of acetyl-CoA

carboxylase (2)?

Long-chain acyl-CoA;cAMP

Q1536:What are the INHIBITORS of HMG-CoA reductase

Cholesterol;cAMP

Q1537:What two rate-limiting enzymes are INHIBITED by

long-chain acyl-CoA?

Citrate synthase;Acetyl-CoA carboxylase

Q1538:What two rate-limiting enzymes are ACTIVATED by

Fructose-1;6-bisphosphatase;Glycogen phosphorylase

Q1539:What is Type I Familial Dyslipidemia?

hyperchylomicronemia

Q1540:What is Type IIa Familial Dyslipidemia?

hypercholesterolemia

Q1541:What is Type IIb Familial Dyslipidemia?

combined hyperlipidemia

Q1542:What is Type III Familial Dyslipidemia?

dysbetalipoproteinemia

Q1543:What is Type IV Familial Dyslipidemia?

hypertriglyceridemia

Q1544:What is Type V Familial Dyslipidemia?

mixed hypertriglyceridemia

Q1545:What is the INHERITANCE of Type IIa Familial

dyslipidemia? (hypercholesterolemia)

autosomal dominant

Q1546:What is INCREASED in Type I Familial

Dyslipidemia?

chylomicrons

Q1547:What is INCREASED in Type IIa Familial

Dyslipidemia (hypercholesterolemia)?

Q1548:What is INCREASED in Type Iib Familial

Dyslipidemia (combined hyperlipidemia)?

LDL; VDL

Q1549:What is INCREASED in Type III Familial

Dyslipidemia (dysbetalipoproteinemia)?

IDL; VLDL

Q1550:What is INCREASED in Type IV Familial

Dyslipidemia (hypertriglyceridemia)?

Q1551:What is INCREASED in Type V Familial

Dyslipidemia (mixed hypertriglyceridemia)?

VLDL; chylomicrons

Q1552:Type I hyperchylomicronemia ELEVATED BLOOD

LEVELS?

TG; cholesterol

Q1553:Type IIa hypercholesterolemia ELEVATED BLOOD

LEVELS?

cholesterol

Q1554:Type IIb combined hyperlipidemia ELEVATED

BLOOD LEVELS?

TG; cholesterol

Q1555:Type III dysbetalipoproteinemia ELEVATED

BLOOD LEVELS?

TG; cholesterol

Q1556:Type IV hypertriglyceridemia ELEVATED BLOOD

LEVELS?

Q1557:Type V mixed hypertriglyceridemia ELEVATED

BLOOD LEVELS?

TG; cholesterol

Q1558:Type I hyperchylomicronemia

PATHOPHYSIOLOGY?

Lipoprotein lipase deficiency; or altered apolipoprotein C-II

(co-factor for lipoprotein lipase)

Q1559:Type IIa hypercholesterolemia

PATHOPHYSIOLOGY?

DECREASE LDL receptors

Q1560:Type IIb combined hyperlipidemia

PATHOPHYSIOLOGY?

hepatic OVERPRODUCTION of VLDL

Q1561:Type III dysbetalipoproteinemia

PATHOPHYSIOLOGY?

ALTERED apolipoprotein E

Q1562:Type IV hypertriglyceridemia

PATHOPHYSIOLOGY?

hepatic OVERPRODUCTION of VLDL

Q1563:Type V mixed hypertriglyceridemia

PATHOPHYSIOLOGY?

INCREASE production/DECREASE clearance of VLDL and

chylomicrons

Q1564:Vit A too much

arthralgias; fatigue; headache; skin changes; sore throat;

alopecia

Q1565:dry beriberi

polyneuritis; muscle wasting

Q1566:wet beriberi

dilated cardiomyopathy; edema

Q1567:B2 deficiency

angular stomatitis; cheilosis; corneal vascularization

Q1568:B3 deficiency

pellagra; diarrhea; dermatitis; dementia; beefy glossitis.

Q1569:causes of pellegra

hartnup disease (dec tryptophan absorbtion); malignant

carcinoid syndrome (increased trypophan metabolism); and

INH (decreased B6)

Q1570:B5 deficiency

dermatitis; enteritis; alopecia; adrenal insufficiency.

Q1571:B6 deficiency

convulsions; hyperirritability; peripheral neuropathy.

Q1572:Sources of B6 deficiency

INH; oral contraceptives.

Q1573:B12 function

Homocysteine + N-methyl THF (B12) to Methionine +

THF; Methylmalonyl-CoA (B12) to Succinyl-CoA

Q1574:causes of B12 defiency

malabsorption (sprue; enteritis; Diphyllobothrium latum);

lack of IF (pernicious anemia); or absence of terminal ileum

(chron's)

Q1575:folic acid precursor in bacteria and use

PABA - sulfa drugs and dapsone are PABA analogs.

Q1576:biotin deficiency

dermatitis; enteritis

Q1577:causes of biotin defiency

antibiotic use; ingestion of raw eggs

Q1578:vit c deficiency

scurvy - swollen gums; bruising; anemia; poor wound healing.

Q1579:vit c 3 mech

hydroxylation of proline and lysine in collagen synthesis;

facilitates iron absorption by keeping iron in Fe+2 reduced

state; necessary as a cofactor for Dopamine to NE

Q1580:Types of Vit D

D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed

skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.

Q1581:Vit D def

Rickets kids (bending bones); osteomalacia in adults (soft

bones) and hypocalcemic tenatny

Q1582:Vit D function

increases Ca and Phosphate aborption.

Q1583:Vit D excess

Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod

macrophages convert Vit D into its active form.

Q1584:Vit E def

increases fragility of EEErythrocytes; neurodysfunction

Q1585:Vit E function

antioxidant (protects erythrocytes from hemolysis.

Q1586:sxs and causes of Vit K def

neonatal hemorrhage with increased PT/aPTT but normal

bleeding times - sterile intestine cant make Vit K

Q1587:Vit K dependent factors

2;7;9;10

Q1588:Vit K antagonist

warfarin

Q1589:Vit K function

Catalyzes (gamma)-carboxylation of glutamic acid residues on

various proteins concerned with blood clotting.

Q1590:Zinc deficiency

Delayed wound healing; hypogonadism; dec adult hair; may

predispose to alcoholic cirrhosis.

Q1591:ETOH metabolism

ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde

dehydrogenase) to acetate. Both require NAD+ which goes to

Q1592:ETOH met rate limiting reagent

Q1593:alcohol dehydrogenase kinetics

zero order

Q1594:Antabuse mech

inhibits acetaldehyde dehydrogenase

Q1595:EtOH hypoglycemia

ETOH metabolism increases NADH/NAD+ ratio in liver -

pyruvate to lactate and OAA to malate - inhibits

gluconeogensis and thus hypoglycemia - fatty acid synthesis -

hepatocellular steatosis (hepatic fatty change)

Q1596:Kwashiorkor

MEAL - malabsorption; edema; anemia; liver (fatty) - protein

malnutrition

Q1597:Marasmus

energy malnutrition - tissue and muscle wasting; loss of

subcut fat; variable edema

Q1598:Von Gierke's disease;Deficient enzyme

glucose-6-phosphatase

Q1599:Von Gierke's disease;Findings

Type I glycogen storage disease;Severe fasting hypoglycemia;

increased glycogen in liver; increased blood lactate;

hepatomegaly

Q1600:Pompe's disease;Deficient enzyme

Lysosomal alpha-1-4-glucosidase (acid maltase)

Q1601:Pompe's disease;Findings

Type II glycogen storage disease;Cardiomegaly and systemic

findings leading to early death;Pompe's trashes the Pump

(heart; liver and muscle)

Q1602:Cori's disease;Deficient enzyme

Debranching enzyme; alpha-1;6-glucosidase

Q1603:Cori's disease;Findings

milder form of type I (Von Gierke's disease) with normal

blood lactate levels;Gluconeogenesis is intact

Q1604:McArdle's disease;Deficient enzyme

Skeletal muscle glycogen phosphorylase

Q1605:McArdle's disease;Findings

increased glycogen in muscle; but cannot break it down;

leading to painful muscle cramps; myoglobinuria with

strenuous exercise;McArdles: think MUSCLE

Q1606:Fabry's disease;Deficient enzyme

Sphingolipidoses;alpha-galactosidase A;X-linked recessive!!!

Q1607:Fabry's disease;accumulated substrate

ceramide trihexoside;X-linked recessive!!!

Q1608:Fabry's disease;Findings

peripheral neuropathy of hands/feet; angiokeratomas;

cardiovascular/renal disease;X-linked recessive!!!

Q1609:Gaucher's disease;Deficient enzyme

beta-glucocerebrosidase!!;AR

Q1610:Gaucher's disease;Accumulated substrate

Glucocerebroside

Q1611:Gaucher's disease;Findings

AR!!;hepatosplenomegaly; aseptic necrosis of the femur;

bone crises; Gaucher's cells (macrophages that look like

crumpled paper)

Q1612:Niemann-Pick disease;Deficient enzyme

Sphingomyelinase

Q1613:Niemann-Pick disease;Accumulated substrate

Sphingomyelin;AR

Q1614:Niemann-Pick disease;Findings

progressive neurodegeneration; hepatosplenomegaly; cherry-

red-spot (on macula); foam cells;AR!

Q1615:Tay-Sachs disease;Deficient enzyme

hexosaminidase

Q1616:Tay-Sachs disease;Accumulated substrate

GM2 ganglioside;AR

Q1617:Tay-Sachs disease;Findings

progressive neurodegeneration; developmental delay; cherry-

red spot; lysosomes with onion skin!!

Q1618:Krabbe's disease;Deficient enzyme

Galactocerebrosidase;AR

Q1619:Krabbe's disease;Accumulated substrate

galactocerebroside

Q1620:Krabbe's disease;Findings

peripheral neuropathy; developmental delay; optic atrophy;

globoid cells

Q1621:Metachromic leukodystrophy;Deficient enzyme

Arylsulfatase A

Q1622:Metachromic leukodystrophy;Accumulated substrate

Cerebroside sulfate

Q1623:Metachromic leukodystrophy;Findings

Central and peripheral demyelination with ataxia; dementia

Q1624:Mucopolysaccharidoses

Hurler's syndrome and Hunter's syndrome

Q1625:Hurler's syndrome;Deficient enzyme

alpha-L-iduronidase

Q1626:Hurler's syndrome;accumulated substrate

heparan sulfate; dermatan sulfate

Q1627:Hurler's syndrome;Findings

developmental delay; gargoylism; airway obstruction; corneal

clouding; hepatosplenomegaly

Q1628:Hunter's syndrome;Deficient enzyme

Mucopolysaccharidoses;iduronate sulfatase

Q1629:Hunter's syndrome;Accumulated substrate

heparan sulfate; dermatan sulfate

Q1630:Hunter's syndrome;Findings

XR!!!;mild-Hurler's (developmental delay; gargoylism; airway

obstruction; corneal clouding; hepatosplenomegaly) with

aggressive behavior; NO corneal clouding

Q1631:What are the FINDINGS in Fabry's disease?

1. peripheral neuropathy of hands/feet;2. angiokeratomas;3.

cardiovascular/renal disease

Q1632:What are the FINDINGS in Gaucher's disease?

1. hepatosplenomegaly;2. asceptic necrosis of femur;3. bone

crises;4. Gaucher's cells (macrophages)

Q1633:What are the FINDINGS in Niemann-Pick disease?

1. progressive neurodegeneration;2. hepatosplenomegaly;3.

cherry red spot (on macula)

Q1634:What are the FINDINGS in Tay-Sachs disease?

1. progressive neurodegeneration;2. developmental delay;3.

cherry-red spot;4. lysozymes with onion skin

Q1635:What are the FINDINGS in Krabbe's disease?

1. peripheral neuropathy;2. developmental delay;3. optic

atrophy

Q1636:What are the FINDINGS in Metachromatic

leukodystrophy disease?

1. Central and peripheral demyelination;2. ataxia;3. dementia

Q1637:What are the FINDINGS in Hurler's Syndrome?

1. Developmental delay;2. gargoylism;3. airway obstruction;4.

corneal clouding;5. hepatosplenomegaly

Q1638:What are the FINDINGS in Hunter's Syndrome?

1. aggressive behavior;2. NO corneal clouding;3. Mild

Hurler's;4. developmental delay;5. gargoylism;6. airway

obstruction;7. hepatosplenomegaly

Q1639:What is the DEFICIENT ENZYME in Fabry's

disease?

alpha-galactosidase A

Q1640:What is the DEFICIENT ENZYME in Gaucher's

disease?

beta-glucocerebrosidase

Q1641:What is the DEFICIENT ENZYME in Niemann-Pick

disease?

sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK)

his nose with his SPHINGER (SPHINGOMYELINASE)."

Q1642:What is the DEFICIENT ENZYME in Tay-Sach's

disease?

Hexosaminidase A;;"Tay-SaX (TAY-SACHS) lacks

heXosaminidase."

Q1643:What is the DEFICIENT ENZYME in Krabbe's

disease?

beta-galactosidase

Q1644:What is the DEFICIENT ENZYME in Metachromatic

Leukodystrophy disease?

Arylsulfatase A

Q1645:What is the DEFICIENT ENZYME in Hurler's

syndrome?

alpha-L-iduronidase

Q1646:What is the DEFICIENT ENZYME in Hunter's

syndrome?

Iduronate sulfatase

Q1647:What is the ACCUMULATED SUBSTRATE in

Fabry's disease?

Ceramide trihexoside

Gaucher's disease?

glucocerebroside

Niemann-Pick disease?

Sphingomyelin

Tay-Sachs disease?

GM2 ganglioside

Krabbe's disease?

Galactocerebroside

Metachromatic Leukodystrophy?

Cerebroside sulfate

Hurler's syndrome?

1. Heparan sulfate;2. Dermatan sulfate

Hunter's syndrome?

1. Heparan sulfate;2. Dermatan sulfate

Q1655:What is the INHERITANCE of Fabry's disease?

Q1656:What is the INHERITANCE of Gaucher's disease?

Q1657:What is the INHERITANCE of Niemann-Pick

disease?

Q1658:What is the INHERITANCE of Tay Sach's disease?

Q1659:What is the INHERITANCE of Krabbe's disease?

Q1660:What is the INHERITANCE of Metachromatic

Leukodystrophy disease?

Q1661:What is the INHERITANCE of Hurler's syndrome?

Q1662:What is the INHERITANCE of Hunter's syndrome?

XLR;;"HUNTERS aim for the X";(XLR)

Q1663:What lysosomal storage dz has renal failure?

Q1664:What lysosomal dz has optic atrophy; spasticity and

early death?

Krabbe

Q1665:Lysosomal Dz that is compatible with a normal life

usually?

Gaucher's Dz

Q1666:Lysosomal Dz w/ increase in sphingomyelin and

cholesterol in reticuloendothelial and parenchymal cells?

Niemann-Pick Dz

Q1667:What lysosomal Dz has cherry-red spot on macula?

Tay-Sachs Dz;Take them in the Sack (the cherries)

Q1668:What lysosomal Dz has accumulation of sulfatide in

brain; kidney; liver and peripheral nerves?

Metachromatic Leukodystrophy

Q1669:What enzyme is deficient in Fabry's Dz?

alfa-galactosidase

Q1670:What accumulates in Fabry's Dz?

ceramide trihexoside

Q1671:What mode of inheritane is Fabry's Dz?

X-linked

Q1672:What enzyme is deficient in Krabbe's?

beta-galactosidase

Q1673:What accumulates in Krabbe?

beta-galactocerebroside

Q1674:What enzyme is deficient in Krabbe?

beta-galatosidase

Q1675:What enzyme is deficient in Gaucher's Dz?

beta-Glucocerebrosidase

Q1676:What accumulates in Gaucher's?

glucocerebroside

Q1677:What enzyme is deficient in Niemann-Pick?

Sphyngomyelinase

Q1678:What accumulates in Neimann-Pick's?

sphingomyelin and cholesterol

Q1679:What enzyme is deficient in Tay-Sachs?

Hexosaminidase A

Q1680:WHat accumulates in Tay-Sach's Dz?

GM2 ganglioside

Q1681:What enzyme is deficient in Metachromatic

Leukodystrophy?

ArylSulfatase A

Q1682:What accumulates in Metachromatic

Leukodystrophy?

Sulfatide

Q1683:What enzyme is deficient in Hurler's Sx?

alpha-L-iduronidase

Q1684:What accumulates in Hurler's Sx?

Increase in dermatan sulfate

Q1685:What enzyme is deficient in Hunter's?

iduronate sulfatase

Q1686:What accumulates in Hunter's?

Heparan Sulfate

Q1687:What are the two Lysosomal Storage Dz that are X-

linked?

Fabry's X and Hunter's X

Q1688:What lysosomal Dz has corneal clouding and mental

retardation?

Hurler's Sx

Q1689:What lysosomal Dz has mild mental retardation?

Hunter's Sx;the hunter needs to see what he is shooting; So

NO corneal clouding;

Q1690:What lysosomal Dz has gargoyle facies?

Hurler's Dz

Q1691:What lysosomal dz has flaring of the distal femur?

(Like Erlehnmeyer Flask)

Gaucher's Dz

Q1692:What two lysosomal Dz are associated with Jews?

Tay-Sach's and Gaucher's Dz

Q1693:Hormones dived into?

Water soluble;Lipid Soluble

Q1694:Water solubles have receptor where?

Membrane Receptor

Q1695:WHere is the receptor in lipid soluble hormones?

Inside the cell

Q1696:What hormones require phosphorylation?

Water Soluble

Q1697:How is gene expression controlled in Water Soluble?

cAMP response element binding (CREB) protein

Q1698:What proteins are used in Water Soluble Hormones?

Leucine Zipper

Q1699:What protein is used for Lipid Soluble Hormones?

Zinc Finger Protein

Q1700:What are the water soluble hormones?

Insulin ;Glucagon;Catecholamines (NE; EPi)

Q1701:What are examples of lipid soluble?

Steroids;Calcitriol ---> Vit D;Thyroxines (thinks is

steroid);Retinoic Acid ----> Vit A.

Q1702:What do you think of with watersoluble hormones?

Male;Receptor Outside (penis);Zipper (Leucine Zipper)

Q1703:WHat do you think of with Lipid Soluble hormones?

Female;Receptor Inside;Zinc Finger Protein

Q1704:What receptors use Glucagon and Epinephrine?

cAMP pathway

Q1705:What are all the messenger involved in cAMP?

Gs Adenylate Cyclase ----> Protein Kinase ;Gi alpha2 beta2

Q1706:What are pathway is used in Vasopressin and

Epinephrine (alpha 1)?

PIP2;PIMP

Q1707:Gq involves?

HAMMV (hummer);Gq magazine;Think C or

K;Phospholipase C;Protein kinase C;DAG; IP3; Ca+

Q1708:What pathway does Atrial Natriuretic Factor (ANF)

and Nitric Oxide (NO) use?

Q1709:What pathway does Insulin use?

INsulin; growth factors ;via Tyrosine Kinase

Q1710:What do you see in the PIMP system? (PIP2)

Gq magazine;Cicis; C C C;Phospholipase C;Protein Kinase

Q1711:Who activates the Ca+ release in the Endoplasmic

Reticulum E.R.?

IP3 activates Ca+ release

Q1712:What does Ca+ activates what in the PIP2 system?

Protein Kinase C

Q1713:What membrane enzyme is used in the ANF or NO?

Guanylate Cyclase

Q1714:If you want to;

Use Guanylate Cyclase

Q1715:Guanylate cyclase activates what?

cGMP ;G is nice to get some;

Q1716:cGMP activates what?

Protein Kinase G

Q1717:What does Protein Kinase G do?

Relaxes Smooth Muscle;;Relax and ENjoy the RIDE!

Q1718:Where is nitrous oxide found?

Heme membrane

Q1719:HOw does insulin activate hormone receptors?

Via Tyrosine Kinase

Q1720:WHat do you find in the membrane for Insulin?

Two beta subunits;cross membrane;;2 membrane helix

span;unlike ANF that has 1 membrane helix span

Q1721:What is unique about the cAMP and PIP2 system?

THey both have a 7 membrane helix span receptor

Q1722:What enzyme of the hormone receptor has only 1

membrane span?

ANF;guanylate cyclase

Q1723:What hormone receptor has 2 membrane helix span?

INsulin;Tyrosine Kinase

Q1724:Where does Nitrous Oxide (NO) come from? a.a.?

Arginine

Q1725:What are some drugs that increase NO?

nitroprusside;Nitroglycerine;Isosorbide dinitrate;Viagra

(Sildenafil);Agina

Q1726:Where is glut 4 found?

Adipose;Muscle;Not Liver Glut-1

Q1727:What happens if there is a mutation that increases G

protein?

Oncogenic;activation of ras (p21 monomeric);gsp (G2 alpha)

Q1728:What is involved in the p21ras oncogene?

Colon;Lung;Breast;Bladder ;ALL TUMORS!!!;liked to

Tyrosine Kinase;G protein!!!

Q1729:WHat is the mechanism for glucocorticods to cause

They increase PEPCK activity via response elements causing

increase gluconeogenesis;increase in glucose---> DM;via Zinc

Finger Proteins

Q1730:Which enzyme does Insulin activate in glucose related

metabolism?

Glycogen Synthase;glucose is stored;glycogen is made;you are

in a well-fed state;just ate

Q1731:Which enzyme is activated when glucagon is present?

Glycogen Phosphorylase is activated;degrages glycogen --->

glucose;increase the release of glucose;you are starving

Q1732:TCA cycle intermediates

Can I Keep Selling Sex For Money;

Officer?;Citrate;Isocitrate;alpha-Ketoglutarate;Succinyl-

CoA;Succinate;Fumarate;Malate;Oxaloacetate

Q1733:Regulated glycolytic enzymes

Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate -

ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F-

1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -Acetyl-

Q1734:Regulated TCA cycle steps

Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; -

ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; -

succinyl CoA)

Q1735:Lesch-Nyhan syndrome

HGPRT deficiency; can'd do purine salvage pathway; get uric

aciduria. X-linked

Q1736:I cell disease

Lack of mannose-6-phosphate transfer enzyme in golgi

network means can't tag lysosomal enzymes for traffic to

lysosome. Get secreted instead->coarse facies; early death

Q1737:Energy from TCA cycle per acetyl CoA

3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1

ATP;12 ATP/cycle via oxidative phosphorylation

Q1738:Galactosemia

Mild: Galactokinase deficiency->galactitol->childhood

cataracts;Severe: Gal-1P uridyl transferase deficiency-> very

high galactitol->liver damage; galactosemia; galacturia;

cataracts; mental retardation ;Tx both w/glucose & lactose free

Q1739:Fructosuria

Fructokinase deficiency: benign fructosuria;Fructose

intolerance: Lack of aldolase B to convert F1P to DHAP and

glyceraldehyde->vomiting w/fructose load; mental retardation;

Q1740:Cofactors for PDH and a-KGDH

Vitamin B1->thiamine->TPP;Vitamin B2->riboflavin-

>FAD+;Vitamin B3->niacin->NAD+;Vitamin B5-

>pentothenate->CoA;Lipoic acid

Q1741:Cori cycle

1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate ->

lactate to regenerate NAD+;3) Lactate to liver via blood;4)

Lacate converted back to pyruvate and then to glucose by

gluconeogenesis (6 ATP);5) Glucose sent back to muscle in

Q1742:Energy yield of anaerobic glycolysis

2 ATP;Reducing equivalents in NADH used to convert

pyruvate to lactate via LDH to regenerate NAD+ to keep

running glycolysis

Q1743:Hexokinase vs glucokinase

Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet

cells; stim'd by insulin with lower Km but higher Vmax-

>glucose storage and

Q1744:SAM

S-adenosyl methionine;ATP+Met-->SAM->-

>Homocysteine;Need B12 & folate to regenerate methionine

from ATP;Regeneration of methionine is how B12 converts

dietary folate into form usable by purine synth and

thymidylate synthase

Q1745:GPCRs that signal via Gs

Gs stims cAMP synth;B1->inotrope/chronotrope;B2->SMC

relaxation;H2->stomach;V2->aquaporin insertion in

kidney;D1

Q1746:GPCRs that signal via Gq

Gq > PLC > DAG+IP3 > PKC & Ca2+;H1->allergy;a1-

>vasoconstrict;V1->vasoconstrict;M1;M3

Q1747:GPCRs that signal via Gi

Gi inhibs cAMP synth;M2;a2;D2

Q1748:Collagen types

Type 1: classic (bone; skin);Type 2: cartilage/joints;

hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type

4: basement membranes

Q1749:Electron transport chain

NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- >

Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+

+ O2;H+ > ATP synthase > ATP

Q1750:Oligomycin

Inhibs ATP synthase > can't dissipate H+ gradient > ETC

machinery gets backed up and stopped > ROS

Q1751:2;4-dinitrophenol

Allows H+ to leak out of mitochondrial matrix > uncouples

electron transport from ATP synthesis gradient

Q1752:Rotenone

Inhibs e- transport > stops ETC > reduces proton gradient

Q1753:Cyanide

Inhibs e- transport > stops ETC > reduces proton gradient

Q1754:Irreversible gluconeogenesis enzymes

Pyruvate carboxylase (mitochondria;PEP

carboxykinase;Fructose-2;6-bisphosphatase;Glucose-6-

phosphatase (liver only)

Q1755:von Gierke's disease

Type I glycogen storage disease;Glucose-6-phosphatase

deficiency;Liver can't export glucose;-Glycogen accum-

>hepatomegaly;-Hypoglycemia;-Lactic acidosis

Q1756:Essential amino acids

PVT TIM

HALL;Phenylalanine;Valine;Tryptophan;Threonine;Isoleucin

e;Methionine;Histidine;Arginine;Leucine;Lysine

Q1757:PVT TIM HALL

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi

onine;Histidine;Arginine;Lysine;Leucine

Q1758:Purely ketogenic amino acids

Leucine & lysine only. Both are also essential

Q1759:Purely glucogenic essential AA:

V-MATH;Valine; methionine; arginine; threonine; histidine

Q1760:Urea cycle

Ordinarily; Careless Crappers Are Also Frivolous About

Urination;Ornithine;Carbamoyl

phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar

ginine;Urea

Q1761:Black urine

Alkaptonuria: can't break down homogentisic acid; a

metabolite of tyrosine

Q1762:Musty odor; pale skin; mental retardation

Phenylketonuria: can't convert phenylalanine (musty and

retarded) to tyrosine (pale)

Q1763:Cystinuria frequency

4.902777778

Q1764:Cystinuria defect

COLA;Defect of AA transporter responsible for resorption

of Cysteine; Ornithine; Lysine & Arginine from proximal

tubule

Q1765:Components of sucrose

Fructose + glucose

Q1766:Components of lactose

GaLactose + glucose

Q1767:Function of ApoA1

Cofactor for LCAT

Q1768:Function of ApoB

Binds LDLR

Q1769:Function of ApoCII

Cofactor for lipoprotein lipase

Q1770:Function of ApoE

Cofactor for lipoprotein binding to receptor for uptake

Q1771:Cherry red spot

Tay-Sachs disease; deficiency of hexosaminidase; so can't

degrade GM2 ganglioside;Also Nieman Pick disease;

deficiency of sphingomyelinase

Q1772:fat soluble

ADEK; absorption dependent on gut (ileum) and

pancreas;toxicity more common because they accumulate in

fat;malabsorption can cause def

Q1773:water soluble

B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily

from body except B12 which is stored in liver

Q1774:A def

Q1775:A function; exceess

constituent of visual pigment; arthralgias; fatigue; headahce;

skin change; sore throat; alopecia;found in leafy veggies

Q1776:B1 (thiamine) def

Beriberi and WK syndrome; seen in alcoholism and

malnutrition;dry: polyneuritis;wet: high output CF

Q1777:B1 function

cofactor for oxidative decarboxy of a-ketoacids; cofactor for

transketolase in HMP shunt

Q1778:B2 (riboflavin) def

angular stomatitis; cheilosis; corneal vascularization

Q1779:B2 function

cofactor in ox-red;FMN; FAD

Q1780:B3 def

pellagra can be caused by Hartnup disease (decreased tryp

absorption); malignant carcinoid syndrome and INH;sxs:

diarrhea; dermatitis; dementia

Q1781:B3 function

constituent of NAD; NADP;derived from tryp using B6

Q1782:B6 (pyridoxine) def

convulsions; hyperirritability (def induced by INH and OCP);

peripheral neuropathy

Q1783:B5 function

coverted to pyridoxal phosphate - transaminatiors (ALT;

AST); decarbox; heme synthesis

Q1784:B12 (cobalamin) def

macrocytic; megaloblastic anemia; neuro sxs (optic

neuropathy; subacute combined degeneration; parasthesia);

glossitis;def caused by: malabsorption; lack of IF; or absence

of terminal ileum;Schilling test to detect def;abnormal myelin

Q1785:B12 function

cofactor for homocysteine methylation (transfers CH3

groups);stored in liver;very large reserve;synthesized by

microorganisms

Q1786:Folic acid def

most common vitamin def; macrocytic; megaloblastic

anemia;no neuro sxs

Q1787:folic acid function

coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in

Me reactions;important for synthesis of nitrogenous bases in

DNA and RNA

Q1788:Biotin def

dermitits; enteritis; caused by antiobiotic use; ingestion of raw

Q1789:Biotin function

cofactor for caboxylations;pyruvate-->OAA;ACOA--

>MCoA;PCOA-->MMCoA

Q1790:Vit C def

scurvy- swollen gums; bruising; anemia; poor wound healing

Q1791:Vit C funciton

necessary for hydroxylation of proline and lysine in collagen

synthesis;facilitates iron absorption by keeping iron in Fe2

reduced state;necessary cofactor for DA-->NE

Q1792:Vit D def

rickets in children (bending bones); osteomalacia in adults

(soft bones); hypocalcemic tetany

Q1793:function vit D

increase intestinal absorption of Ca and P

Q1794:vit D excess

hypercalcemia; loss of appetite; stupor;seen in sarcoidosis-

disease where epithelial macrophages convert vit D into active

Q1795:storage form of vitamin D

25-OH D3

Q1796:active form of vit D

1; 25 (OH)2 D3

Q1797:vit D from milk

ergocalciferol; consumed in milk D2

Q1798:vit D from sun skin

cholecalciferol D3

Q1799:Vit E def

increased fragility of erythrocytes; neurodysfunction

Q1800:vit E function

antioxidant (protects erythrocytes from hemolysis)

Q1801:vit K def

neonatal hemorrhage with increased PT and PTT but normal

bleeding time because neonates have sterile intestines and are

unable to synthesize vit K

Q1802:vit K function

catalyzes gamma carboxylation of glutamic acid residues on

various proteins concerned with blood clotting;synthesized

by intestinal flora

Q1803:K dependent clotting factors

II; VII; IX; X;protein C and S;warfarin is vitamin K antagonist

Q1804:Zinc deficiency

delayed wound healing; hypogonadism; decreased adult hair;

may predispose to alcoholic cirrhosis

Q1805:Clinical characteristics of WK syndrome

ocular distrubances; nystagmus;gait ataxia;mental dysfunction

(confusion; apathy; listlessness; disorientation);Korsakoff

psychosis- retrograde recall; inability ot acquire new info

Q1806:ntureint def assoc with cheilosis; glossitis; stomatitis

iron; riboflavin; niacin; folate; B12

Q1807:how does niacin help tx type IIb

hyperlipoproteinemia

inhibits lipolysis in adipose-->less circulating free fatty acids

--> less fatty acids to liver --> less VLDL --> less LDL

Q1808:INH leads to deficiency in

B6 and B3

Q1809:folic acid is involved in synthesis of;

purines (A and G) and thymine

Q1810:where is B12 absorbed

distal ileum;Crohns and sprue can cause absorption problems

Q1811:what organs help absorb B12

salivary glands; stomach; pancreas; distal ileum

Q1812:antioxidant vitamins

C; E and A

Q1813:how does vit D work at the cell

interacts with target cell DNA to selectively stimulate or

repress gene stimulation

Q1814:first vit D hydroxylation

25; in liver

Q1815:second vit D hydroxylation

1; in kidney

Q1816:What drug block DNA Topoisomerase II? Prok?

Eukar?

Prok: nalidixic acid/quinolones;Eukaryotes: etoposide ;and

teniposide

Q1817:Which cells contain telomerase? What are they linked

embryonic; germ cells; stem cells except somatic cells;-

cancer/malignant cells have a high level of telomerase;They are

linked with apoptosis

Q1818:What is another name for topoisomerase II in PROK?

DNA gyrase

Q1819:What nucleic acid has the most methyl groups?

Cytosine

Q1820:What happens when you take a methyl out of

Cytosine?

It becomes demethylated to Uracil

Q1821:During what cell cycle does DNA repair occur?

G1 Phase

Q1822:When does mismatch repair occur? (phase)

G2 phase

Q1823:What does p53 gene encode for?

Protein that prevents a cell w/ damaged DNA from entering

the S phase

Q1824:What disease is associated with p53 gene?

Li Fraumeni Syndrome and many solid tumors

Q1825:What is ATM gene?

ATM encodes for a kinase needed for p53 to work

Q1826:What is ATM gene associated with?

ataxia telangiectasia

Q1827:What is ataxia telangiectasia?

hypersensitivity to X-rays;predisposition to lymphomas

Q1828:What is BRCA1 associated with?

Breast; Prostate and Ovarian Cancer

Q1829:What is BRCA 2 associated with?

Breast cancer

Q1830:What are BRCA1 and 2 associated with?

required for p53 activity

Q1831:What happens when UV light damages DNA? What

disease is prone to this damage? Why?

it crease thyamine dimers;- patients with Xeroderma

Pigementosa;- they lack excision endonuclease

Q1832:What does Xeroderma Pig. consists of?

- Extreme UV sensitivity;- excessive freckling;- multiple skin

cancers;- corneal ulcerations

Q1833:What are two diseases that are associated with DNA

repair?

Xeroderma and Hereditary Nonpolyposis Colorectal Cancer

(HNCC)

Q1834:What drug inhibits DNA dependent RNA

polymerase?

Rifampin

Q1835:What drug binds to DNA preventing its transcription?

Actinomycin D

Q1836:What drug inhibits RNA polymerase II?

amanitin (from mushrooms)

Q1837:Which RNA do RNA Pol 1;2 and 3 code for?

1 2 and 3 rhyme with R M T;respectively;1 rRNA 2 mRNA

3 tRNA

Q1838:What is similar to sigma factor in Eukaryotes?

TFIID; transcription factors II;they bind before RNA Pol;

just like Sigma factors

Q1839:How does RNA pol know where to start?

- sigma factor needs to find promoter region;- two consensus

sequences are recognized as TATA BOX

Q1840:How long does sigma stay bound to DNA?

As soon as transcription begins; sigma is released

Q1841:How does mRNA know when to stop trasncription?

Rho-independent termination occurs when newly formed

RNA folds on itself to form GC-rich hairpin loop

Q1842:How does Rho-dependet termination work?

Rho displaces RNA pol from the 3' end of the RNA once it

has paused at the termination site

Q1843:What binds to Shine-Dalgarno sequence?

Ribosomes

Q1844:Where are Shine-Dalgarno sequences located?

5' end

Q1845:What is unique about prokaryotic transcription and

translation?

They can both start at the same time with the help of Shine-

Dalgarno sequences which allow ribosomes to hook on and

start the translation before transcription is done

Q1846:What is Shine-Dalgarno?

Shine-Dalgarno sequences lets prokaryotes shine! They can

do 2 things at the same time! Transcribe and TRANSLATE!

Q1847:What are the three STOP codons?

UAG;UAA;UGA;U Are Gone;U Are Away;U Go Away

Q1848:What is the poly-A tail added for?

1) protect from rapid degradation;2) transport to cytoplasm

Q1849:What is added at the 5' end of the transcribed mRNA?

It is actually hnRNA and a methylguanosine cap Me-Gppp is

added to the 5' end

Q1850:What is the function of the methyl guanosine cap?

It helps protect the mRNA chain from degradation

Q1851:Where is the poly A tail added?

3' end

Q1852:What can you say about the length of the poly A tail?

The longer the more stable the mRNA (hnRNA)

Q1853:What is another name for spliceosome?

snRNP; SNURP

Q1854:What is the function of spliceosomes?

They excise introns and leave only exons to be expressed

Q1855:What disease has a problem in spliceosomes/snRNP?

B-thatlassemia since mutations interfere with the splicing of

Beta-Globin mRNA

Q1856:How are the introns degraded?

They are degraded in a lariat structure and excised by

spliceosomes

Q1857:How can you calculate how many introns you have?

I=E-1;If you have 4 exons;Then you have I=4-1;I=3; 3 introns

Q1858:Where is the activated amino acid in a tRNA?

at the 3' end

Q1859:How does tRNA accomplish its lariat shape

(loop/cloverleaf)?

it has weird bases like;D;T;Pseudouridine

Q1860:Where is the anticodon found in the tRNA?

in the middle of the loop;center loop in between 5' and 3' ends

Q1861:How do you know a protein is marked for

destruction?

It has been ubiquiniated by ubiquitin;Usually because of

misfolding

Q1862:Who translates proteins for cytoplasm and

mitochondria?

free cytoplasmic ribosomes

Q1863:Who transtalates proteins for secreted proteins;

membrane proteins; and lysosomas enzymes?

Rough E.R.

Q1864:How can you make a protein to be delivered to the

R.E.R.?

N-terminal hydrophobic signal sequence has to be added to be

secreted or placed in the membranes

Q1865:How do you direct a prtoein to go inside a lysosome?

It is phosphorylated with a mannose residue in the R.E.R;-

usually this protein is an enzyme to be delivered to the

lysosome

Q1866:What happens to misfolded proteins?

They are mark with ubiquitin to be destroyed by

proteosomes;you will be liquidated!!!;Ubiquinated!!!!

Q1867:What are proteosomes?

They are large cytoplasmic complexes that digest damaged

proteins

Q1868:What enzyme is deficient in Fabry's Dz?

alpha-galactosidase A

Q1869:What enzyme is deficient in Krabbe's Dz?

BB for beta-galactosidase

Q1870:What enzyme is deficient in Gaucher's Dz?

beta-glucocerebrosidase;(It is in the center of the reactions)

Q1871:What enzyme is deficient in Niemann-Pick's Dz?

Sphingomyelinase

Q1872:What enzyme is deficient in Metachromic

Leukodystrophy?

Arylsulfatase A

Q1873:What enzyme is deficient in Tay Sachs Dz?

Hexosaminidase A

Q1874:What accumulates from Fabry's Dz?

ceramide trihexoside

Q1875:What is the finding in Fabry's Dz?

renal failure

Q1876:What accumlulates in Krabbe's Dz?

galactocerebroside in the brain

Q1877:What is the finding in Krabbe's Dz?

Optic atrophy;spasticity;early death;The krabbe got your

Q1878:What accumlulates in Gaucher's Dz?

glucocerebroside;- brain;- liver;- spleen;- bone marrow;G is for

Glucocerebrosidase

Q1879:What accumlulates in Neimann Pick's Dz?

sphingomyelin and cholesterol;No man Picks his nose with

hiSPHINGER

Q1880:Wnat are the findings in Neimann Pick Dz?

increase cholesterol and sphyhingomyelin in

reticuloendothelial and parenchymal cells;- Patients die by age

Q1881:What accumlulates in Tay Sachs Dz?

GM2 ganglioside 2

Q1882:What are the findings in Tay Sachs Dz?

Cherry-red spot on macula;1:30 carrier in European

Jews;Death by age 3;Got a Sach of Cherries in your Macula

Q1883:What accumlulates in Metachromatic

Leukodystrophy?

sulfatide in;- brain;- kidney;- liver;- peripheral nerves

Q1884:Which lysosomal storage diseases (of the

sphingolipidoses) are autonomal recessive?

All except Fabry's!!!

Q1885:What lysosomal storage disease are x-linked?

sphingolipidosis: Fabry's;mucopolysaccharidoses:

Hunter's;Hunter's hit the X

Q1886:What mucopolysacharidose Dz has no corneal

clouding?

Hunter's;They need to see what they hunt!

Q1887:What enzyme is deficient in Hurler's Dz?

alpha-L-iDURONidase

Q1888:What enzyme is deficient in Hunter's Dz?

iDURONate sulfatase

Q1889:What increases in Hurler's Sx?

heparan and dermatan sulphate;mucopolysaccharides

Q1890:What are the signs of Hurler's Sx?

Halted growth ;Progressive mental retardation ;Thick; coarse

facial features with low nasal bridge ;Cloudy corneas

;Deafness ;Joint disease; including stiffness ;Heart value

problems ;Abnormal bones of spine and claw hand

Q1891:How do we screen for Hurler's Sx?

Urine Heparan and Dermatan sulfate

Q1892:What is a term associated with Hurler's Sx?

Gargoylism since there are facial deformities

Q1893:What signs and symtoms are associated with Hunter's

protuberant abdomen; claw hands; excessive hair growth;

coarsening of the face with grotesque facial features; retarded

growth; and behaviour problems.

Q1894:Which syndrom is severe? Hurler or Hunter?

Hurler's Syndrome ;It is termed MPS I;Hunter is MPS II

Q1895:What amino acid is unique to collagen?

Hydroxyproline

Q1896:Where does glycosylation occur?

E.R. and Golgi apparatus

Q1897:Which enzymes are requiered to make collagen?

proline and lysine hydroxylases

Q1898:What vitamin is needed to make collagen?

Vitamin C;- Hydroxylates Proline and Lysine in the RER

Q1899:What are some co-factors of lysyl oxidase?

O2 and Copper (Cu)

Q1900:What Dz results from deficiency of Lysyl Oxidase and

Deficient Copper (Cu2+);Menke's Dz is a genetic deffect that

decrease collagen synthesis

Q1901:What enzyme is deficient in Ehler's Danlos?

Lysine Hydroxylase

Q1902:What are the signs and symptoms of Menke's Dz?

Depigmented (steely) hair;Arterial tortuosity;

rupture;Cerebral degeneration;Osteoporosis

Q1903:What collagen is affected in Osteogenesis Imperfect?

Type I for bONE

Q1904:What do you see in patients with Osteogenesis

Imperfecta?

skeletal deformities;fractures;blue sclera

Q1905:What other disease is involved in Copper usage?

Wilson's Dz but it is a Copper (Cu2+) toxicity

Q1906:What are some symptoms of Wilson's Dz?

Liver Cirrhosis;Cu damages nerves and causes Brown Kaisser-

Fleischner Rings

Q1907:What inhibits eEF-2? Elongation factor 2 in

Eurkaryotes

Diphtheria and Pseudomonas Toxins

Q1908:What inhibits protein translation in Eukaryotes?

Diphteria and Pseudomonas

Q1909:Where do Diphtheria and Pseudomonas act?

eEF-2 is inhibited

Q1910:How many ATPs high energy bonds are needed to

translate an amino acid?

4 Total for each amino acid;breakdown;2 ATP for charging;1

GTP for initiation;1 GTP for Elongation

Q1911:What is the antibiotic of choice for pertussis?

Erythromycin; blocks transLOcation;macrOLide

Q1912:What results in Menkes Dz?

- Fragile bones;- Fragile blood vessels;from poorly crosslinked

connective tissue

Q1913:What blocks ADP ribosylation of EF-2?

Diphtheria and Pseudomonas

Q1914:What is an operon?

group of proteins required for a particular metabolic function

Q1915:Where is the regulatory region in Prokaryotes?

Upstream on the 5' end

Q1916:What kind of mRNA does the operon produce?

Polycistronic mRNA

Q1917:What two ways of transcriptional control exist in

prokaryotes?

regulation of activator and repressor proteins;Attenuation

Q1918:Where do we find Attenuation?

Histidine Operon

Q1919:What model do we use for activator and repressor

proteins?

Lac Operon

Q1920:What two regulatory proteins exist in the Lac Operon

Control?

lac repressor protein;c-AMP-dependent activator protien

Q1921:What does the lac operon sense?

glucose is preferred but in the absence lactose is taken as

energy

Q1922:What regulates the CAP?

cAMP levels;if glucose is low; cAMP increases and activates

Q1923:What happens to the lactose operon if glucose is

present?

it is shutdown;glucose decreases cAMP;so CAP doesn't bind

to CAP site

Q1924:When does CAP bind to CAP site?

when glucose is low since cAMP is high

Q1925:When is the repressor protein made?

Always since it is embedded in the mRNA sequence

Q1926:What does lactose do to the lac operon?

lactose induces gene expression since it prevents the repressor

protein from binding to the operator sequence

Q1927:If lactose is high and glucose is low what happens?

1) lactose binds to repressor and stimulates gene

expresssion;2) cAMP is high so it binds to CAP protein and

Q1928:When does the lactose operon stop sequence?

when the repressor protein is bound to the operator

Q1929:When is high expression of the lac operon found?

High lactose and no glucose

Q1930:When glucose is present does cAMP go up or down?

they are inversely proportional;Glucose high cAMP

low;glucose low cAMP high

Q1931:When glucose is high; what happens to the repressor?

it remains active since CAP can't block it (cAMP is low)

Q1932:What compounds are formed when lactose is broken

galactose and glucose

Q1933:What enzyme degrades lactose?

Beta-Galactosidase

Q1934:Where does RNA polymerase work on?

Promoter

Q1935:Lactose goes with

Repressor

Q1936:Repressor attaches to?

Operator

Q1937:Attenuation??? Which operon?

Histidine Operon

Q1938:What happens when histidine is absent?

enzymes are produced

Q1939:What other a.a. work similar to the Histidine Operon?

Tryptophan;Leucine;Phenylalanine

Q1940:What is attenuation?

premature termination of transcription

Q1941:What does attenuation in prokaryotes depdend on?

The fact that transcription and translation occur

simultaneously in prokaryotes

Q1942:What happens if histidine is present?

Transcription is terminated before RNA pol reaches operon

Q1943:Can attenuation occur in Eukaryotes?

No! Transcription and translation are two separate;

independent events

Q1944:What starts translation after leader peptide is made?

Shine-Dalgarno sequence

Q1945:What happens when histidine is low?

the ribosomes will stall and not form the stem and loop +

poly U that stops the ribosomes and they will continue to

transcribe the genes of the operon

Q1946:What are activator proteins called in Eukaryotes?

Response Elements

Q1947:Where are response elements located?

Some upstream in promoter region;Most in an enhancer region

outside of promoter even more upstream

Q1948:Where are upstream promoter elements located?

Just upstream of -25 sequence TATA Box

Q1949:What does the upstream promoter elements include?

CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and -

Q1950:What are the characteristics of enhancers?

Contain activator proteins;- may be 1000 bp away from

gene;- upstream; downstream; within an intron;-they are

tissue specific

Q1951:What are repressor proteins in Eukaryotes called?

Silencers

Q1952:What are cis regulators?

DNA regulatory base sequences/binding sites for proteins

Q1953:What are trans regulators?

transcription factors

Q1954:What are the properties of a trans regulatory

property?

they can diffuse through the cell to their point of action.

Q1955:What protein class are steroid receptors?

Zinc Finger

Q1956:What protein class are cAMP response element

binding prtoeins? (CREBs)

Leucine Zipper

Q1957:Homeodomain proteins are what protein class and

what are they involved in?

Helix-turn-helix;Regulate gene expression during

development;- embryonal development

Q1958:What protein class are peroxisome proliferator-

activated receptors? (PPARs)

Zinc finger proteins

Q1959:What is the response element for 1) steroid

receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)

1) HRE;2) CRE;3) PPREs

Q1960:Which response element is induced with the new tx for

insulin resistance?

PPARs;- thiazolidinediones

Q1961:What is a new drug that targets Peroxisime

proliferator-activated receptors? (PPARs)

Clofibrate;-affects lipid metabolism

Q1962:What happens when glucose is low?

Glucagon released

Q1963:What is the effect of glucagon on gene regulation?

increases cAMP

Q1964:What happens in time of stress?

Cortisol secreted

Q1965:What does cAMP do?

- activates Protein Kinase A;- CREB is activated via

phosphorylation

Q1966:CREB binds to what in the nucleus?

CREB enters the nucleus and binds CRE region in the

enhancer region

Q1967:What does the GRE and CRE region do?

They enhance or activate PEPCK gene

Q1968:Who activates GRE enhancer region?

cortisol (glucocorticoid response element)

Q1969:Who activates CRE enhancer region?

Active CREB (cAMP response element) which is activated

by cAMP

Q1970:What are two homeodomain protein regulator genes?

HOX and PAX genes;Homeobox and Paired-Box genes

Q1971:What disease is associated with PAX (paired-box)

genes?

Klein Waardenburg syndrome (WS-III);dystopia canthorum;

pigment abnormalities;congenital deafness;limb abnormalities

Q1972:What are some exceptions to codominat expression?

- Barr Body (inactive X chromosome) in women;- Ig heavy

and light chain loci;- T-cell receptor loci

Q1973:What happens when genes become acetylated?

The histones are acetylated and it increases gene expression

Q1974:How do genes become silenced? Give two diseases

that follows this;

Methylation of DNA silences genes;Prader-Willi and

Angelman Sx

Q1975:What chromosome is involved in defect of imprinting?

Chromosome 15

Q1976:What is the problem in Prader-Willi Sx?

Prader-Willi region is inherited from Paternal Origin (P for

P);so; if father has defective chromosome 15 then symptoms

will occur

Q1977:What are the symptoms of Prader-Willi Sx?

- Childhood obesity + hyperphagia;- Hypogonadotrophic

hypogonadism;- Mental Retardation;- Hypotonia

Q1978:How else can you get Prader-Willi Sx?

uniparental (maternal) disomy of chromosome 15

Q1979:When does upstream termination occur?

When histidine is present

Q1980:When does downstream termination occur?

when histidine is absent;* this is a normal termination

Q1981:What kindo of domain do HOX and PAX have?

helix-turn-helix domain

Q1982:What is the first step in increase activity of beta-

galactosidase activity?

increase in cAMP due to glucose depletion

Q1983:Why does beta-galactosidase activity decrease?

depletion of lactose;- dissociation of repressor protein;-

binding of repressor to operator control region

Q1984:Chp. 6

Recombinant DNA

Q1985:WHat does restriction sites provide?

Usually defense against DNA viruses

Q1986:How do palindromes get protected in bacterial DNA?

methylase enzyme modification

Q1987:How is infecting viral DNA recognized?

unmethylated palindromes are recognized by restriction

endonuclease

Q1988:What is a vector?

piece of DNA that is capable of autonomous replication in a

host cell

Q1989:What is recombinant DNA?

when a fragment is placed inside a vector

Q1990:What is a genomic DNA library?

colonies produced by plating the recombinant DNA with

antibiotic resistance and sensitivity

Q1991:What can restriction site polymorphisms be used for?

These enzymes cut DNA sequences and detect defects in

longer sequences or shorter sequences;Example: Sickle Cell

Mutation which results in ONE long 1.35 kb fragment instead

of a 1.15kb and a 0.2kb fragment (2 fragments is normal)

Q1992:What do cDNA lack?

introns

Q1993:What must cDNA contain?

complete coding sequence of a gene

Q1994:What is produced at the end of a cloning procedure?

An expression library

Q1995:What do you do after reverse transcriptase has created

the first strand of cDNA?

Treat DNA with NaOH to remove mRNA template

Q1996:What enzyme do you use to create cDNA?

reverse transcriptase

Q1997:How do you remove mRNA template strand in

making cDNA?

NaOH (sodium hydroxide)

Q1998:What must be inserted in order to produce proteins as

the end product of cloning?

- Bacterial Promoter;- Shine-Dalgarno Sequence

Q1999:What are 3 examples in which cDNA expression

libraries are being used?

1) Recombinant Human Insulin;2) Recombinant Factor VIII

(treating Hemophilia A);3) Recombinant HBsAg

(antigen(protein) is made and given to patients to immunize

them against hepatitis B without introducing the live virus)

Q2000:Does the gene therapy cure the patient and subsequent

generations?

NO! it cures only the patient since it is only introduced into

the affected organ and not into the reproductive tissues of the

afected individual

Q2001:What is a transgenic animal?

animal in which a new gene has been introduced into its

germline

Q2002:How is gene therapy different from Transgenic

Animals?

transgenic animals have virtually new gene in every cell;

including the gametophytes so that they get passed on to their

offspring and these are no longer affected by the defect

Q2003:What are genomic libraries used for?

studying DNA sequences that are not expressed;- response

elements;- introns;- promoters;Constucting restriction maps

of DNA (sickle cell);Id genetic markers (microsatellites)

Q2004:Chp. 7

Genetic Testing

Q2005:What are the Autosomal Dominant Dz characteristics?

- Only one mutant allele needed;- both sexes affected;- male to

male transmission

Q2006:What are the Autosomal Dominant Dz?

1) Familian Hypercholesterolemia (LDL receptor def.);2)

Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute

Intermitent Porphyria

Q2007:What are the characteristics of autonsomal recessive?

- two mutant alleles are requiered;- born to unaffected

parents;- either sex;- male to male transmission

Q2008:What are some of the autosomal recessive dz?

* Sickle Cell Anemia;* Cystic Fibrosis;* Phenylketonuria;*

Tay-Sachs Dz (Hexosaminidase A def.)

Q2009:What are the traits of X-linked dominant?

- One mutant allele ;- either sex;- affected male passes on to all

daughters;- affected female passes trait to both fem and males

Q2010:What are 2 X-linked Dominant Dz?

- Hypophosphatemic Rickets;- Fragile X syndrome

Q2011:What are the traits of X-linked recessive dz?

- usually males are affected;- no male to male transmission

Q2012:What are some of the X-linked recessive dz?

1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx

(Hypoxanthine-guanine phosphoribosyltransferase

HGPRT)self mutilation;3) Glucose-6-Phosphate

Dehydrogenase def;4) Hemophilia A and B

Q2013:What is the trait of Mitochrondrial Inheritance?

- inherited maternally;- ALL offspring of affected female are

affected!

Q2014:What are the 3 diseases that arise from Mitochrondrial

Inheritance?

LHON; MELAS and MERRF;1) Leber Hereditary Optic

Neurophathy;2) Mitochondrial Encephalomyopathy; lactic

acidosis; stroke-like episodes;3) Myoclonic epilepsy with

ragged red muscle fibers

Q2015:What form of inheritance is Cystif Fibrosis?

autosomal recessive

Q2016:How do you inherit Hungtington Dz?

Autosomal Dominat

Q2017:What form of inheritance is sickle cell disease?

autosomal recessive

Q2018:What form of inheritance is Fragile X Sx?

X-linked Dominant

Q2019:How is Phenylketonuria inherited?

autosomal recessive

Q2020:How is Lesch-Nyhan Sx inherited?

X-linked recessive

Q2021:How is Neurofibromatosis I inherited?

Autosomal Dominant

Q2022:What is the mode of inheritance of Marfan Sx?

Autosomal Dominant

Q2023:How is Leber Hereditary Optic Neuropathy inherited?

Mitochrondrial Inheritance

Q2024:How is Duchenne Muscular Dystrophy inherited?

x-linked recessive

Q2025:How is myoclonic epilepsy inherited?

mitochrondrial inheritance

Q2026:How is Acute intermittent porphyria inherited?

Autosomal DOMINANT

Q2027:How is Rickets inherited?

X-linked Autosomal Dominant

Q2028:How is Cystic Fibrosis inherited?

autosomal recessive

Q2029:How is Phenylketonuria inherited?

autosomal recessive

Q2030:How is Familia Hypercholesterolemia inherited?

Autosomal Dominant;LDL receptor deficiency

Q2031:How is Tay-Sachs Disease inhertied?

autosomal recessive

Q2032:How is Lesch-Nyhan Sx inherited?

HGPRT def;X-linked recessive

Q2033:How is Hemophilia A and B inherited?

X-linked recessive

Q2034:How is Glucose-6-phosphatase inherited?

X-linked recessive

Q2035:How is cystic fibrosis inherited?

CFTR autosomal recessive

Q2036:Which RNA is identical to the coding strand?

the mRNA

Q2037:What is the template strand?

The strand that is compelementary and antiparallel to the

Q2038:What amino acids (a.a.) are precursors of

catecholamines?

Phenylalanine and Tyrosine

Q2039:What does tryptophan form?

Serotonin and Niacin

Q2040:What a.a. is involved in depression?

Tryptophan--> makes Serotonin

Q2041:What a.a. are involved in maple syrup disease?

Isoleucine; Leucine and Valine;I Love Vermont maple syrup!!!

Q2042:What a.a. is a secondary amine?

Proline

Q2043:What does Proline do to the protein structure?

disrupts secondary structure

Q2044:What are the acidic a.a.?

aspartic acid and glutamic acid ;negatively charged coo-

Q2045:What a.a. are basic? 3

Histidine; Arginine; Lysine;BASE HAL;They are positively

charged NH+

Q2046:What a.a. is associated with the Golgi apparatus? 2

serine and threonine;O-linked glycosylation;Mannose-6-

phosphate;lysosomes

Q2047:What a.a. is associated w/ endoplasmic reticulum and

export of proteins?

Asparagine;N-linked glycosylation

Q2048:What are two a.a. that conatin sulfure?

Cysteine and Methionine

Q2049:What does cysteine do to the protein structure?

stabilize the shape of proteins (3ry structure)

Q2050:What two a.a. are linked with post-translational

modificacion?

serine; threonine and asparagine

Q2051:What a.a. is a methyl donor?

methionine ;S-adenosaylmethionine (SAM)

Q2052:What does tyrosine make?

Catecolamines;Thyroid T3/T4;Melanin

Q2053:What is the smallest a.a.?

glycine

Q2054:What a.a. makes tyrosine?

Phenylalanine

Q2055:What is made with tyrosine?

cathecholamiens;thyroid T3T4;melanin

Q2056:What a.a. is associated with Vitamin B3?

tryptophan is asociated with B3 (niacin) ;NAD

Q2057:What disease is also related to tryptophan deficiency

and pellagra?

Hartnup Dz;since decreases Niacin B3 and causes Pellagra

(dermatitis; diarrhea; demetnia)

Q2058:What a.a. contributes to the negative charge of

proteins?

aspartic acid coo-;glutamic acid

Q2059:What a.a. contributes to the positive charge of

proteins?

lysine and arginine

Q2060:What a.a. is abundant in RBC?

histidine since it brings the pH to 7.0

Q2061:What is the only a.a. that is useful in maintaining the

physiologic pH (7.2-7.4)?

Histidine pK at 7.0

PVT TIM HALL;Private tim hall

Q2063:What does PVT TIM HALL stand for?

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi

onine;Histidine;Arginine;Leucine;Lysine

Q2064:What charge is the protein if the pH is lower than the

positive ;- it is trying to compensate and neutralize it

(buffering it)

Q2065:What charge is the protein if the pH is higher than the

negative

Q2066:What are Cooperative Enzymes called?

Allosteric Enzymes

Q2067:WHat happens when Km increases?

the affinity is low

Q2068:What do enzymes do with chemical Rx?

decrease energy of activation

Q2069:What happens when there is a competitive inhibitor?

Km increases; Vmax stays the same;Thin Kompetitive

Increases

Q2070:What happens when noncompetitive inhibitor binds?

Km no effect; Vmax decreases

Q2071:What happens when an irreversible inhibitor binds?

Km no effect; Vmax decreases

Q2072:What are two examples of competitive inhibitors?

HMG-coA reductase;Methotrexate (inhibits folic acid

dihidrofolate reductase)

Q2073:What hormones affecte near-by organs?

paracrine

Q2074:What hormones go around the body through long

distances?

telecrine

Q2075:What are two examples of paracrine hormones?

prostaglandins and neurotransmitters

Q2076:What are two classes of telecrine hormones?

endocrine and GI hormones

Q2077:What are the two classes of hormones?

Hydrophocis and Hydrophilic

Q2078:Where is the receptor for water soluble hormone?

Lipid soluble?

Water- receptor on cell membrane;Lipid - inside the cell Zinc

Finger

Q2079:What happens to the hormone inside the cell?

Water - second messengers;Lipid - hormone receptor complex

binds to response elements (HRE in enhancer region)

Q2080:How are water soluble hormones controlling gene

expresion?

Through proteins like cAMP respones element binding

(CREB)

Q2081:Which process (water or lipid soluble) is faster?

water soluble

Q2082:What hormone group uses Leucine Zippers?

Water Soluble

Q2083:Give three examples of water soluble?

Insulin;Glucagon;Catecholamines

Q2084:What are 4 examples of lipid soluble hormones?

Steroids;Calcitriol;Thyroxines;Retinoic Acid

Q2085:What are the three second messengers for water

soluble hormones?

cAMP;PIP2 (DAG; IP3; Ca2+);cGMP

Q2086:What does cAMP control? protein/enzyme/kinase?

Gs protein; adenyl cyclase enzyme; protein kinase A

Q2087:What does PIP2 control? protein/enzyme/kinase?

Gq; phospholipase C; protein kinase C

Q2088:What does cGMP control? protein/enzyme/kinase?

none; guanyl cyclase; protien kniase G

Q2089:What are two examples of cAMP control?

glucagon;epinephrine (alpha2 and beta)

Q2090:What are two examples of PIP2?

vasopressin;epinephrine (alpah 1)

Q2091:What are two examples of cGMP?

Atrial Natriuretic Factor (ANF);Nitric Oxide (NO)

Q2092:What does insulin; growth factor control?

protein/enzyme/kinase?

monomeric p21ras; none; tyrosine kinase

Q2093:What are some examples of insulin and growth factors

control?

insulin;insulin-like growth factor (IGF);platelet-derived

growth factor (PDGF);Epidermal Growth Factor (EGF)

Q2094:What water soluble hormone system has a 7 helix-

cAMP and PIP2 system

Q2095:Whioh system works inside the nucleus?

cAMP through CREB protein

Q2096:Which system works with the E.R.?

PIP2; releases Ca2+ from E.R.

Q2097:What system doesn't requiere G proteins?

cGMP for example Atrial Natriuretic Factor (ANF)

Q2098:What two protoncogenes are associated with G

proteins?

1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp

oncogene;pituatary tumor; adenomas; endocrine ovarian

turmos

Q2099:What protein is stimulated in Cholera toxin?

Gs alpha stimulates increase in cAMP

Q2100:What is similar in ADP-ribosylation of Gs alpha?

Cholera toxin and E. coli toxin

Q2101:What bacteria inhibits Gi alpha?

Pertussis;Increase activity of adenyl cyclase

Q2102:What does p21 ras do?

stimulates monomeric G protein

Q2103:What is SH2 linked with?

Tyrosine Kinase

Q2104:What is sildenafil associated with?

inhibits cGMP phosphodiesterase (PDE) in vascular smooth

muscle

Q2105:What is the correct sequence in cGMP and sildenafil?

increase cGMP--> increase protein kinase--> vasodilation

Q2106:What is associated with growth factor?

tyrosine kinase

Q2107:Vitamins

Chp. 10

Q2108:What enzymes is biotin involved in?

All cabroxylases;pyruvate; acetyl coA; propionyl coA

carboxylase

Q2109:Which enzymes is vitamin B1 involved in?

Thiamine is B1 involved in ;pyruvate dehydrogenase;alpha-

ketoglutarate dehydrogenase;transketolase

Q2110:What pathways are involved with Thiamine?

B1 is involved in;PDH (pyruvate DHG);TCA cycle (alpha-

kg);HMP Shunt (transketolase)

Q2111:What are the symptoms of B1 deficiency?

Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoff-

confabulation; psychosis;Wet Beri-beri cardiac failure lots of

ATP needed

Q2112:What is vitamin B3?

Niacin

Q2113:What is vitamin B3 involved with?

dehydrogenases

Q2114:What co-factors are made by B3?

NAD and NADP

Q2115:What disease comes about with B3 deficiency?

diarrhea; dementia; dermititis ;pellagra

Q2116:What is a.a. deficient in B3 deficiency?

tryptophan (in corn)

Q2117:What is folic acid involved in? (enzyme)

thymidylates synthase;purine synthesis enzymes

Q2118:What is the MCC of B1 deficiency?

Alcoholism

Q2119:What is the MCC of thiamine def.?

alcoholism and pregnancy

Q2120:How long is thiamine stored?

3 months

Q2121:What are the risks of folic acid deficiency?

homocystinemia;deep vein thrombosis and atherosclerosis

Q2122:What happens to fetus if there is folic acid def.?

neural tube defects

Q2123:What is vitamin B12 involved in? enzymes?

Homocysteine methyltransferase;Methymalonyl CoA mutase

Q2124:What pathways is B12 involved in?

methionine; SAM;odd-carbon FA;val; met; ile; thr

Q2125:What two vitamins cause megaloblastic anemia?

B12 and folic acid

Q2126:What is the MCC of B12 def?

pernicious anemia

Q2127:What are other causes of B12 def.?

aging; poor nutrition; bacterial overgrowth of terminal

ileum;resection of terminal ileum secondary to Crohn's

DZ;chronic pancreatitis;vegans;infection with D. Latum

Q2128:What is the difference between B12 and folic acid def.?

B12 has progressive peripheral neuropathy

Q2129:What enzymes are involved with B6 vitamin?

B6 is pyridoxine;Aminotransferases;AST (GOT);ALT

(GPT);Lamba-Aminolevulinate synthase

Q2130:What pathways is B6 involved in?

protein catabolism;heme synthesis

Q2131:What is the MCC of vit. B6 def.?

isoniazis therapy

Q2132:What do you find in B6 def.?

sideroblastic anemia;cheilosis and stomatitis;convulsions

Q2133:What is B2 vitamin?

RI BO flavin

Q2134:What cofactors are derived from B2?

FAD(H2)

Q2135:What enzymes are involved with B2?

dehydrogenases

Q2136:What findings w/ B2 def?

Corneal neovascularization;Cheilosis;Stomatitis;Magenta-

Colored Tongue

Q2137:What enzymes are involved with vitamin C?

prolyl hydroxylases;Lysyl hydroxylases;DOPAMINE

hydroxylase

Q2138:What pathways are involved with vitamin C?

collagen syntehsis;catecholamine synthesis;(absoprtion of

Iron from GI tract)

Q2139:What is the MCC of vit. C def?

diet deficient in fruit and green vegetables

Q2140:What vitamin is involved in carboxylation of glutamic

vitamin K

Q2141:What factors are involved in vitamin K?

2; 7; 9; 10 Protein C and S

Q2142:What is vitamin A involved in? Dz?

night blidness;follicular hyperkeratosis;xerophtalmia

Q2143:What is another name for vitamin A?

carotene;involved in retinoic acid and retinol ;ol oic;behave as

steroid hormones

Q2144:What part of vitamin A is involved in rod and cone cell

division?

Retinal;al

Q2145:What vitamin prevents oxidation of LDL particles?

vitamin E

Q2146:What is another name for vitamin E?

tocopherol

Q2147:What vitamin acts as steroid hormone uptake of

dietary Ca+ from gut?

Vitamin D

Q2148:What two disease cause by vitamin D def?

children: Rickets;Adults: Osteomalacia

Q2149:What is the physiologic response to hypocalcemia?

- increase PTH;- PTH binds to proximal tubules;- cAMP

activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal

epithelial cells;- Zinc finger proteins binds to response

elements (in enhancer region of DNA);- induce synthesis of

calcium binding proteins

Q2150:What vitamin is toxic in pregnancy?

Vitamin A (Acutane) used to treat ACNE

Q2151:What vitamin D does the skin produce?

cholecalciferol (vitamin D3)

Q2152:What happens to vitamin D in the liver?

25-hydroxylation in the liver

Q2153:What is needed in patients with renal dz; fanconi sx;

and genetic deficiency of 1-alpha-hydroxylase?

they all need to be supplemented with 1;25

DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase

is not working

Q2154:Patients with liver damage should be given what?

25-DHCC or 1;25 DHCC

Q2155:Liver provides what to vitamin D?

two things;1st cholesterol to skin to make 7-

dehyrocholesterol;2nd 25-hydroxylation

Q2156:What is the comercial name for a retinoic acid that is

teratogenic?

isotretinoin

Q2157:When does vitamin K act?

it is a co-translational modification;it acts during translation

Q2158:What causes vit. K deficiency? (drug)

1) phenylhydantoins during pregnancy ;vit. k deficient

baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct

occlusin);4) prolong tx w/ antibiotics

Q2159:What is seen in the lab for vit K def?

increase PT;factor II

Q2160:What drug is a direct inhibitor of vit. K?

warfarin and coumadin

Q2161:Inheritance of CF?

Autosomal recessive

Q2162:Inheritance of albinism?

Autosomal recessive

Q2163:Inheritance of alpha-1 antitrypsin deficiency?

Autosomal recessive

Q2164:Inheritance of phenylketonuria?

Autosomal recessive

Q2165:Inheritance of thalassemias?

Autosomal recessive

Q2166:Inheritance of sickle cell anemia?

Autosomal recessive

Q2167:Inheritance of glycogen storage diseases?

Autosomal recessive

Q2168:Inheritance of mucopolysaccharidoses (EXCEPT

HUNTER'S)?

Autosomal recessive

Q2169:Inheritance of sphingolipidoses (EXCEPT FABRY'S)?

Autosomal recessive

Q2170:Inheritance of infant polycystic kidney disease?

Autosomal recessive

Q2171:Inheritance of hemochromatosis?

Autosomal recessive

Q2172:Inheritance of Fragile X syndrome?

X-linked recessive

Q2173:Inheritance of Duchenne's muscular dystrophy?

X-linked recessive

Q2174:Inheritance of Hemophilia A and B?

X-linked recessive

Q2175:Inheritance of Fabry's (a sphingolipidosis disease)?

X-linked recessive

Q2176:Inheritance of G6PD deficiency

X-linked recessive

Q2177:Inheritance of Hunter's syndrome (a

mucopolysaccharidosis disease)?

X-linked recessive

Q2178:Inheritance of OCULAR albinism?

X-linked recessive

Q2179:Inheritance of Lesch-Nyhan syndrome?

X-linked recessive

Q2180:Inheritance of Bruton's agammaglobulinemia?

X-linked recessive

Q2181:Inheritance of Wiskott-Aldrich syndrome?

X-linked recessive

Q2182:how many chromosomes and autosomes does each cell

have?;what is the genetic term?

46 chromosomes;22 pairs of autosomes;1 pair of sex

chromosomes;"Diploid"

Q2183:Definition;a chromosome number that is not a multiple

of 23 (the normal haploid number)

Aneuploidy

Q2184:(2) ways that a haploid can become aneuploidy

Nondisjunction;(ex - Down's);Anaphase Lag;(monosomy)

Q2185:what most commonly occurs w/ a polyploidy

fetus?;give an example of what polyploidy means

spontaneous abortion;Polyploidy = multiples of 23

chromosomes;ex) 69 chromosomes in patient

Q2186:Definition;two acrocentric chromosome are joined by

common centromere causing the joining of the long arms (and

possible loss of the short arms)

Robersonian Translocation

Q2187:Definition;the normal inactivation of one X

chromosome

Lyonization;(creation of Barr Body)

Q2188:How many Barr Bodies;1. XX;2. XY;3. XXXY

XX = 1 barr body;XY = NO barr bodies;XXXY = 2 barr

bodies

Q2189:Definition;when the cells in the body have a different

genetic make-up (such as random X inactivation in females)

Mosaicism

Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds;

Brushfield spots; simian crease;genetic problem?

Down's syndrome;;(Trisomy 21)

Q2191:MCC of Down's syndrome;what is the other

cause?;what is the "Familial form"?

Nondisjunction;;(Robertsonian) Translocation;(familial form)

Q2192:MC heart defect w/ Down's syndrome;what is it due

Septum primum-type ASD;due to: Endocardial Cushion

defect

Q2193:(3) MC complications of Down's syndrome

AAA;ASD;ALL;Alzheimers

Q2194:what is the maternal screening for Down's;1. Alpha-

fetoprotein;2. hCG;3. Unconjugated estriol

AFP = Low;hCG = High;E2 = Low

Q2195:Dx;severe mental retardation; microcephaly; wide-set

eyes; low birth weight; round face; unusual cry;genetic

problem?

Cri du chat;(deletion: 5p-)

Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic

aplasia; abnormal facies; cleft palate;genetic problem?

DiGeorge syndrome;(also called Velocardialfacial

synd);(22q11 microdeletion);*signs = CATCH-22

Q2197:Dx;mental retardation; prominent occiput;

Micrognathia; Rocker-bottom feet; index finger overlaps 3rd

and 4th fingers; Congenital heart dz;genetic problem?

Edwards syndrome;(Trisomy 18 - nondisjunction);*18 =

Election = Edwards

Q2198:Dx;mental retardation; microcephaly; Microphthalmia;

cleft lip and palate; Polydactyly; rocker-bottom feet;genetic

problem?

Patau syndrome;(Trisomy 13 - nondisjunction);13 = Puberty

= Patau (= 13 fingers)

Q2199:Definition;disorder when there are at least two X-

chromosomes and one or more Y-chromosomes

Klinefelter syndrome

Q2200:Dx;male w/ Atrophic testes; Tall stature;

Gynecomastia; decreased testosterone; increased pituitary

gonadotropins; male infertility;genetic problem?

Klinefelter syndrome;(maternal meiotic nondisjunction);[Kline

felt her TAG him]

Q2201:Dx;Violent behavior; tall; severe Acne

XYY syndrome

Q2202:MCC of Primary Amenorrhea

Turner's syndrome

Q2203:Dx;Short stature; shield-like chest; Amenorrhea;

Webbed neck; Ovary replaced by Fibrous Streaks;genetic

problem?

Turner's syndrome;(XO w/o Barr bodies);[Turner WAS not

feminine]

Q2204:MC cardiac problem w/ Turner's syndrome

Coarctation of the aorta

Q2205:(2) common cardiac defects w/ 22q11 syndromes

(DiGeorge)

Truncus Arteriosus;Tetralogy of Fallot;[where all the T's

went to;]

Q2206:Dx;mental retardation; long face w/ large jaw; large

everted ears; Autism; Macro-orchidism;genetic problem?

Fragile X syndrome;(X-lined defect w/ CGG repeats);[big

testicles = X-rated]

Q2207:what is the underlying (biochemical) cause of Fragile X

syndrome?;what is unusual about this syndrome?

defect in Methylation of FMR1 gene;X-linked problem that

may show signs of retardation in male and female offspring

Q2208:Definition;severity of Dz worsens or age of onset of

dz is earlier in succeeding generations;(example)

Anticipation;(Huntingtons)

Q2209:Definition;hereditary disorders in which differing

phenotypes occur depending on whether an abnormal gene is

of maternal or paternal origin;(examples)

Genomic Imprinting;(Prader-Willi or Angelman)

Q2210:Dx;mental retardation; hypogonadism; hypotonia;

behavior problems; uncontrolled appetitie leading to obesity

and DM;genetic problem?

Prader-Willi syndrome;(5q11-13 deletion on father's

chromosome)

Q2211:Dx;mental retardation; ataxia; seizures; inappropriate

laughter;genetic problem?

Angelman syndrome;(5q11-13 deletion on mother's

chromosome)

Q2212:Definition;Not all individuals w/ mutant genotype

show mutant phenotype

Incomplete penetrance

Q2213:Definition;one gene has greater then one effect on the

individual's phenotype

Pleiotropy

Q2214:Definition;a heterozygote produces a nonfunctional

altered protein that also prevents the normal gene product

from functioning

Dominant Negative mutation;(exerts a Dominant effect)

Q2215:Definition;mutations at different loci can produce the

same phenotype;(example)

Locus Heterogenicity;(Albinism)

Q2216:Equation for Hardy-Weinberg population

genetics;Disease Prevalence

p^2 + 2pq + q^2 = 1

genetics;Allele Prevalence

p + q = 1

genetics;Heterozygote Prevalence;(p and q on separate alleles)

HP = 2pq

Q2219:type of inheritance;often due to Structural defects

Autosomal Dominant

Q2220:type of inheritance;often due to Enzyme deficiencies

Autosomal Recessive

Q2221:Main sign of;X-linked Recessive

no male-to-male transmission

Q2222:Main sign of;X-linked Dominant

All females are affected by father

Q2223:Lysosomal storage Dz;peripheral neuropathy of hands

and feet; angiokeratomas; CV and renal

Dz;Enzyme?;inheritance?

Fabry's Dz;(alpha-Galactosidase A);X-recessive

Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic

necrosis of femur; bone pain; unique macros;Enzyme?

Gaucher's Dz;(Glucocerebrosidase)

Q2225:Lysosomal storage Dz;progressive neurodegeneration;

hepatosplenomegaly; cherry-spot on macula;Enzyme?

Niemann-Pick;(Sphingomyelinase)

Q2226:Lysosomal storage Dz;progressive neurodegeneration;

developmental delay; cherry-spot macula; lysozymes w/

onion skin;Enzyme?

Tay-Sachs Dz;(Hexosaminidase A)

Q2227:Lysosomal storage Dz;peripheral neuropathy;

developmental delay; optic atrophy;Enzyme?

Krabbe's Dz;(beta-Galactosidase);[Krabs have small eyes]

Q2228:Lysosomal storage Dz;developmental delay;

gargoylism; airway obstruction; corneal clouding;Enzyme?

Hurler's syndrome;(Alpha-L-IDuronidase);[A Lit-ID in

Quasimoto caused him to HURL the GARGOYLE]

Q2229:Lysosomal storage Dz;mild developmental delay; mild

gargoylism; airway obstruction; aggressive

behavior;Enzyme?;inheritance?

Hunter's syndrome;(Iduronate Sulfatase);[Hunter's Aggressive

ID Shot the X];X-recessive

Q2230:Familial Dyslipidemia type;Inc Chylomicrons

only;pathology?

Type I;(hyperchylomiconemia);Lipoprotein Lipase

deficiency

Q2231:Familial Dyslipidemia type;Increased LDL only;(high

blood cholesterol);pathology?

Type IIa;(hypercholesterolemia);Low LDL receptors

Q2232:Familial Dyslipidemia type;Increased LDL and

VLDL;pathology?

Type IIb;(combined hyperlipidemia);Hepatic overproduction

of LDL

Q2233:Familial Dyslipidemia type;Increased IDL;

VLDL;pathology?

Type III;(dysbetalipoproteinemia);Altered Apo-E

Q2234:Familial Dyslipidemia type;Increased VLDL

only;(high blood TG);pathology?

Type IV;(hypertriglyceridemia);Hepatic overproduction of

Q2235:Familial Dyslipidemia type;Increased VLDL;

chylomicrons;pathology?

Type V;(mixed hypertriglyceridemia);Inc production or Dec

clearance of VLDL and chylomicrons

Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural

tumors; pigmented iris hamartomas; scoliosis

Neurofibromatosis Type 1;(Von Recklinghausen Dz);(chrom

Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas;

optic pathway gliomas; juvenile cataracts

Neurofibromatosis Type 2;(chrom 22)

Q2238:Autosomal Dominant Dz;facial lesions;

hypopigmented "ash leaf spot" on skin; cortical and retinal

hamartomas; seizures; mental retardation

Tuberosus Sclerosis

IVMS Genetics Flash Facts

Documents

iVMS-4500(iPhone) Mobile Client Software User Manualdvs.co.uk/media/wysiwyg/support/hikvision/APP-Hikvision.pdf · iVMS-4500(iPhone) Mobile Client Software 1 iVMS-4500(iPhone) Mobile

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IVMS General Pathology Lecture Notes

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iVMS-2000 V2.0.1 User Manual

IVMS Autonomic Nervous System Summary

iVMS 4000(V2.0) User Manual - Hikvisionoversea-download.hikvision.com/UploadFile/file/iVMS 4000 Client... · Chapter 1 Welcome to iVMS‐4000 (V2.0) ... 8.2 Local Playback ... , re‐click

iVMS-5200 PROFESSIONAL VMS PLATFORM · iVMS-5200 PROFESSIONAL VMS PLATFORM COMPLETE. SMART. OPEN. Hikvision iVMS-5200 Professional is a centralized video software that …

IVMS-CV-Cardiovascular Pathology

IVMS 4500 User Guide Handleiding...- Camera Views - Playback Footage IVMS 4500 User Guide Installing IVMS 4500 1. Log onto the Google Play or App Store. 2. Enter “iVMS-4500” to

iVMS-2000 V2.0.2 User Manual

IVMS TomTom Shell Implementation

iVMS-4500 (iOS) Mobile Client Software - EasternCCTVeasterncctv.com/download/Manuals/IVMS-4500-User-Manual.pdf · ivms-4500 (ios) mobile client software 1 ... hikvision has been advised

Flash Notes Genetics

IVMS High Yield Images (327075)

iVMS-4200 Client Software

iVMS-4200 Part 2 Adding Deviceshikvisionusa.com/Techsupport/how to/ivms/iVMS-4200_Part...Import Camera Names • Cameras import with default names of Camera1, Camera2, etc. Can pull

UD.6L0202D1029A01 - viditronic.dk iVMS-4500 (iPhone) Manual V3.1.pdf · iVMS-4500 (iPhone) Mobile Client Software 3 Chapter 1 Introduction 1.1 Overview iVMS-4500 V3.1 mobile client

iVMS-4500 (Android) Mobile Client Software iVMS-4500 (Android) manual_V3.1.pdf · iVMS-4500 (Android) Mobile Client Software 3 Chapter 1 Introduction 1.1 Overview iVMS-4500 (Android)

iVMS-2000 - VideoWave HA Series/iVMS... · 2011. 6. 17. · iVMS-2000 Hybrid PC-DVR Software Quick Start Guide V2.0.1 Hangzhou Hikvision Digital Technology Co., Ltd