RxPG News Feed for RxPG News

Medical Research Health Special Topics World
  Home
 
   Health
 Aging
 Asian Health
 Events
 Fitness
 Food & Nutrition
 Happiness
 Men's Health
 Mental Health
 Occupational Health
 Parenting
 Public Health
 Sleep Hygiene
 Women's Health
 
   Healthcare
 Africa
 Australia
 Canada Healthcare
 China Healthcare
 India Healthcare
 New Zealand
 South Africa
 UK
 USA
 World Healthcare
 
   Latest Research
 Aging
 Alternative Medicine
 Anaethesia
 Biochemistry
 Biotechnology
 Cancer
 Cardiology
 Clinical Trials
 Cytology
 Dental
 Dermatology
 Embryology
 Endocrinology
 ENT
 Environment
 Epidemiology
 Gastroenterology
 Genetics
  Cloning
  Genetic Disorders
   Brachydactyly
   Fragile X Syndrome
   Huntington's
   MSUD
   Progeria
  X Chromosome
 Gynaecology
 Haematology
 Immunology
 Infectious Diseases
 Medicine
 Metabolism
 Microbiology
 Musculoskeletal
 Nephrology
 Neurosciences
 Obstetrics
 Ophthalmology
 Orthopedics
 Paediatrics
 Pathology
 Pharmacology
 Physiology
 Physiotherapy
 Psychiatry
 Radiology
 Rheumatology
 Sports Medicine
 Surgery
 Toxicology
 Urology
 
   Medical News
 Awards & Prizes
 Epidemics
 Launch
 Opinion
 Professionals
 
   Special Topics
 Ethics
 Euthanasia
 Evolution
 Feature
 Odd Medical News
 Climate

Last Updated: Oct 11, 2012 - 10:22:56 PM
American Journal of Human Genetics Genetic Disorders Channel

subscribe to Genetic Disorders newsletter
Latest Research : Genetics : Genetic Disorders

   EMAIL   |   PRINT
Gene mutation associated with X-linked mental retardation revealed

Mar 19, 2007 - 10:53:10 PM , Reviewed by: Dr. Ankush Vidyarthi
"This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."

 
[RxPG] Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis, according to an article to be published electronically on Tuesday, March 20, 2007 in The American Journal of Human Genetics.

Investigators F. Lucy Raymond (Cambridge Institute of Medical Research, University of Cambridge, Cambridge, UK) and Patrick S. Tarpey (Wellcome Trust Sanger Institute, Hixton, UK) describe the ZDHHC9 gene found in those with severe retardation as being mutated to the point of entirely losing function.

"ZDHHC9 is a novel gene," explains Dr. Raymond. "This gene would not have been predicted to play a role in mental retardation based on the previous genetics work. It was found only because we were systematically looking at all the genes on the X chromosome irrespective of what they do."

X-linked mental retardation is severe. Some patients require total care and may not have language ability. The condition runs in families and only affects the male offspring. So far only a few of these genes have been identified.

Working through a large, international collaboration, the researchers collected genetic samples from 250 families in which at least two boys have mental retardation to help identify novel genes that cause X-linked mental retardation. The investigators systematically analyzed the X chromosome for gene mutations.

Dr. Raymond says that the families are receiving information from the study and using it to make decisions in their lives. "We cannot currently make their children better, but knowing that we found a genetic abnormality gives them an explanation for what has happened," she explains. "We had one family that said this knowledge was the best news they had ever been given."

"We have identified the cause of problems in certain families and are able to tell whether or not women are carriers of the condition," Dr. Raymond comments. "Consequently, the families that had previously chosen to forego having children because there was no method of testing can now be tested. We have been able to test a substantial number of people to identify whether are not they are carriers, and we can offer prenatal testing to the carriers who want it."

In the broader picture, this research is not only benefiting families with X-linked mental retardation, but it is also defining the genes involved in intellectual development. "If you find genes that are abnormal, it is a reasonable assumption that the identified genes are involved in the formation of normal intellectual processing as well," concludes Dr. Raymond.

Now that a posttranslational modification enzyme has been found to be mutated in X-linked mental retardation, the researchers expect to find similar genes related to other mental retardation syndromes.



Publication: American Journal of Human Genetics
On the web: http://www.journals.uchicago.edu/ 

Advertise in this space for $10 per month. Contact us today.


Related Genetic Disorders News
XXYY syndrome- features and treatment options elucidated by researchers
Switching genes to overdrive improves muscular dystrophy symptoms in mice
Gene mutation associated with X-linked mental retardation revealed
Link between Huntington's and abnormal cholesterol levels in brain discovered
Williams Syndrome, the brain and music
Exploring genetics of congenital malformations
FDA Approves Idursulfase As First Treatment for Hunter Syndrome
PARP1 inhibitors can protect Huntington's disease affected cells from damage
Gene therapy protects neurons in Huntington's disease
Huntingtin cleavage is caused by caspase-6

Subscribe to Genetic Disorders Newsletter

Enter your email address:


 About Dr. Ankush Vidyarthi
This news story has been reviewed by Dr. Ankush Vidyarthi before its publication on RxPG News website. Dr. Ankush Vidyarthi, MBBS is a senior editor of RxPG News. He is also managing the marketing and public relations for the website. In his capacity as the senior editor, he is responsible for content related to mental health and psychiatry. His areas of special interest are mass-media and psychopathology.
RxPG News is committed to promotion and implementation of Evidence Based Medical Journalism in all channels of mass media including internet.
 Additional information about the news article
This paper is the fourth in a series of research articles identifying new genes that cause mental retardation when they mutate. The first three articles on DLG3, CUL4B and AP1S2 were also published in The American Journal of Human Genetics.

The American Journal of Human Genetics provides a record of research and review relating to heredity in man and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. Topics include behavioral, biochemical, clinical, cyto-, immuno-, molecular, neuro-, and population genetics; counseling, dysmorphology, gene therapy, epidemiology, and genomics. AJHG is published by the University of Chicago Press on behalf of the American Society of Human Genetics.

F. Lucy Raymond, Patrick S. Tarpey, et al., "Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus." The American Journal of Human Genetics, 2007;80:5
 Feedback
For any corrections of factual information, to contact the editors or to send any medical news or health news press releases, use feedback form

Top of Page

 
Contact us

RxPG Online

Nerve

 

    Full Text RSS

© All rights reserved by RxPG Medical Solutions Private Limited (India)