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Genomewide Mapping Reveals Developmental And Environmental Impacts and New Gene for Intellectual Disability Discovered, Study Finds Laura María Pineda Jiménez Medicine Student 3rd Semester 2011

Genomewide mapping reveals developmental and environmental impacts and new gene for intellectual disability discovered

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Page 1: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Genomewide Mapping Reveals Developmental And Environmental Impacts

and New Gene for Intellectual Disability Discovered, Study Finds

 Laura María Pineda JiménezMedicine Student3rd Semester2011

 

Page 2: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

FOLDING

Page 3: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

FOLDING

Page 4: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

INTRODUCTION

DNA is the molecule that contains genetic 

information and  permanently is exposed 

to different factors causing several 

damages known as mutations

The development of new techniques such as genetic maps, allow to 

identify the components of the genome and 

beyond that, determine the possible causes of 

many diseases

Page 5: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

GENOMEWIDE MAPPING  REVEALS DEVELOPMENTAL AND ENVIRONMENTAL IMPACTS

SCIENCEDAILY (AUG. 22, 2011)

 

Page 6: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL

IMPACTS

• Small  flowering  plant  with  a  short  life cycle (6 weeks)

• Model  organism  in  plant  biology  and genetics because    it has a rather small genome  (157  Mbp  and  5 chromosomes)

• First  plant  genome  to  be  sequenced and  to  assign  functions  to  its  27,000 genes  and  the  35,000  proteins  they encode

Arabidopsis thaliana: 

Page 7: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Measurement and treatment of the plants:

• Plants contain  the  enzyme  myrosinase, which,  in  the  presence  of  water,  cleaves off  the  glucose  group  from  a glucosinolate.  The  remaining  molecule converts  to  active  substances  that  serve as defense for the plant

• Silver  nitrate:  used  in  organic  synthesis, for deprotection and oxidations

GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL

IMPACTS

Page 8: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

• Method of mapping quantitative trait loci

• It  is used  in  the  form of a genome-wide association  study  wich  is  performed  by scanning  an  entire  genome  for  SNPs associated with a particular  trait, or with a particular disease 

• Cancer, Alzheimer’s disease and obesity

GENOMEWIDE MAPPING REVEALS DEVELOPMENTAL AND ENVIRONMENTAL

IMPACTS

Association mapping:  

Page 9: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Today  the  number  of  investigations  aimed  at  the discovery  of  potential  internal  and  external  factors  that may  affect  the  genome  has  greatly  increased  at  the same  time  that  they  develop  new  techniques  and methods to facilitate their identification, and in this way to prevent diseases that continually affect human

OBSERVATION

Page 10: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

NEW  GENE  FOR INTELLECTUAL DISABILITY DISCOVERED

SCIENCEDAILY (JULY 29, 2011) 

 

Page 11: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Endoplasmic  reticulum  mannosyl-oligosaccharide  1,2-alpha-mannosidase:

• Enzyme that in humans is encoded by the MAN1B1 gene

• This  gene  is  involved  in  glycoprotein  quality  control  targeting  of misfolded glycoproteins for degradation

NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED

Page 12: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Recessive Inheritance cause  intellectual disability:

• When the gene causing the condition  is recessive, usually  the  number  of  people  affected  is  much smaller

• An  affected  individual  fruit  of  two  families  with  no history  (both  parents  are  heterozygous  for  the mutation),  because  there  is  a  normal  dominant allele

NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED

Page 13: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Intellectual disability: 

• Is  a  broad  concept  encompassing  various  intellectual  deficits (mental  retardation,  learning  disability,  brain  injuries  or neurodegenerative diseases)

• It may appear at any age

• Mental retardation: Defined as an Intelligence Quotient score under 70,  including  a  component  relating  to  mental  functioning  and  one relating to individuals' functional skills in their environment

NEW GENE FOR INTELLECTUAL DISABILITY DISCOVERED

Page 14: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

This  research  is  a  joint  achievement  of  different  people around  the  world  interested  in  the  identification, diagnosis and treatment of many diseases, that today, its causes  are  unknown  to  humans. All  these  projects  will always have the same purpose, which is to  improve the quality of life for people around the world. What drives a man to develop every day new technologies that serve to facilitate the manipulation of the human genome

OBSERVATION

Page 15: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

MEDICAL UTILITY

Page 16: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

MEDICAL UTILITY

Using  the  technologies that  have  been developed  day  by  day, is  much  easier  for scientists, clinicians and researchers  identify different diseases and  it is  also  possible  to quickly  develop  a diagnosis and treatment or  even  prevent  them before  their manifestation

Page 17: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

Is  not  just  function  of  a  few  people  the  study  of  the genome,  but  also  is  a  function  of  students,  teachers, doctors,  scientists,  researchers  and  many  more  people, and  from  everyone  working  together  can  get  great contributions to science and human development

MEDICAL UTILITY

Page 18: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

MEDICAL UTILITY

The  use  of technologies  for  the study  of  DNA,  has  as main  objective  to ensure the quality of life for all patients suffering from  genetic  diseases and  to  facilitate  their daily performance

Page 19: Genomewide mapping reveals developmental and environmental impacts  and new gene for intellectual disability discovered

• Genomewide Mapping Reveals Developmental and Environmental Impacts. ScienceDaily (Aug. 22, 2011). Taken from:  http://www.sciencedaily.com/releases/2011/08/110816152241.htm, on September 15th from 2011.

• New Gene for Intellectual Disability Discovered. ScienceDaily (July 29, 2011). Taken from: http://www.sciencedaily.com/releases/2011/07/110715135141.htm, on September 15th from 2011.

• M. S. Lina María, V. G. Natalia, T. M. Andrés Eduardo, P. S. Ana Paulina and Q. O. Esteban. Biología molecular. Libro de clase. 6a ed. Medellín - UPB. Facultad de Medicina, 2011. Pág. 134 - 136.

BIBLIOGRAPHY

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