Inherited DiseasesGenetic diseases passed from parents to child before birth

Examples of Inherited Diseases

Tay SachsHemophiliaCystic FibrosisHuntington’s DiseasePolycystic Kidney DiseaseHemachromatosisSickle Cell Disease

Tay Sachs

What is it? A metabolic disease caused by the

lack of an enzyme to efficiently breakdown fatty acid.

What is the outcome?

Severe neurological disorders with death usually occurring before age 4.

What are the symptoms?

•Loss of motor skills.•Loss of muscle tone.•Listlessness and Irritability.

Hemophilia

What is it? A metabolic disease caused by the

lack of a protein necessary to efficiently clot blood.

What is the outcome?

Prone to excessive bleeding, but modern drug therapy can lessen effect.

What are the symptoms?

•Bruise easily.•Blood slow to clot.

Cystic Fibrosis

What is it? A disease caused by the production of abnormal, thick, sticky mucus.

What is the outcome?

Death caused by lung infections usually before age 35.

What are the symptoms?

•Coughing and wheezing.•Diarrhea.•Chronic lung infections.

Huntington’s Disease

What is it? A progressive disease caused by the deterioration of nerve cells in the brain.

What is the outcome?

Continual decline in mental and physical ability; death usually occurs 15 to 20 years after onset.

What are the symptoms?

•Difficulty walking.•Uncontrollable body movements.•Memory and cognitive impairment.

Polycystic Kidney Disease

What is it? A disease caused by the development of fluid-filled growths called cysts inside the kidney.

What is the outcome?

Dialysis or a kidney transplant may eventually be required.

What are the symptoms?

•Blood in urine.•Lower back pain.•Kidney stones.

Hemachromatosis

What is it? A metabolic disease caused by the over absorption of iron.

What is the outcome?

Damage to multiple organs due to excess iron.

What are the symptoms?

•Joint pain.•Fatigue.•Heart problems.

Sickle Cell Disease

What is it? A metabolic disease caused by the production of deformed hemoglobin.

What is the outcome?

Death in middle age due to increased risk of stroke, heart attack, and infection.

What are the symptoms?

•Fatigue.•Yellow colored skin—Jaundiced.•Increased number of infections.

How Are Diseases Inherited?

Passed from parent to child in the genetic material in the same way that all traits are passed to the next generation.

What Is Genetic Material?

Genetic material refers to the chemical molecules that encode all the instructions cells need to function.

These instructions are passed on to the next generation when cells reproduce.

Reproductive cells carry the genetic material to create a new organism.

Human Reproductive Cells

Egg: Produced by females in the ovary.

Sperm: Produced by males in the testis.

Both types of cells carry the genetic material needed to form a new human.

Egg Cell

Used with permission Scott Kaplan, Pacific Fertility Centerhttp://www.infertilitydoctor.com/lab/lab_embryo_devel.htm

Sperm Cells

Used with permission of Sandra Caudle, Calhoun Community Collegehttp://webnt.calhoun.edu/distance/Internet/Natural/anatomy/EndoRepro/spermcells.html

 

What Causes Inherited Diseases?

Genetic material of a cell is changed causing a change in the cell’s and ultimately the body’s function which lead to a disease.

The changed genetic material is passed from parents to child.

Reproductive Cells and Chromosomes

Chromosomes contain the genetic material.

Each reproductive cell contains one copy of each of the 23 human chromosomes.

Fertilization

• Sperm cell fuses with egg cell.

• The nucleus of the sperm cell is injected into the egg cell.

• After the sperm fertilizes the egg, a zygote containing 23 pairs of chromosomes is formed.

Early Zygote

Used with the permission of Richard Sherbahn, MD. Advanced Fertility Center of Chicago

http://www.advancedfertility.com/embryos.htm

Nuclei from egg and sperm fusing

What Are Chromosomes?

Complex structures found in the nucleus of cells.

Different types of organisms have different numbers of chromosomes.

Number of chromosomes does not indicate complexity of the organism.

Number of Chromosomes in Cells from Different Animals

Human 46

Dog 78

Cat 38

Horse 64

Cow 60

Sheep 54Microsoft Office Clip Art www.microsoft.com