Navigation Links
Severe Mental Retardation Gene Mutation Identified

Researchers have identified a novel gene mutation that causes X-linked mental retardation for which there was no previously known molecular diagnosis,// according to a study.

Investigators F. Lucy Raymond, University of Cambridge and Patrick S. Tarpey Wellcome Trust Sanger Institute, 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.


Related medicine news :

1. Low Cholesterol Linked to Severe Depression and Violent Behavior in Men
2. Severe stress weakens immunity
3. Severe Acute respiratory Syndrome (SARS)
4. WHO Travel Advice to prevent spread of "Severe Acute Respiratory Syndrome (SARS)
5. Patients With Severe Hemophilia At Risk Of Developing Osteoporosis
6. Severe sleep apnea can cause liver problems
7. Scientists Unveil Mechanism Behind Resistance to Severe Malaria
8. Strong Magnetic Stimulation Can Help Treating Severe Depression
9. Patients Suffering From Severe Mental Diseases Are At Risk Of Being Crime Victims
10. Acute Toxicity Of Nano-Scale Zinc Powder: Severe Renal Damage And Anemia
11. Poor Glycaemic Control In Hispanics With Diabetes Causes Severe Depression
Post Your Comments:

(Date:11/29/2015)... ... ... Effective immediately, every single IguanaMed scrub style will be available at Target via ... “Buy One Scrub Set, Get the 2nd Scrub Set 50% Off” for a limited ... price. , IguanaMed’s mission is to outfit every healer around the world ...
(Date:11/28/2015)... , ... November 28, 2015 , ... Safe storage for ... of two inventors, one from Lakewood, New Jersey and the other from Bradley Beach, ... patent-pending PROTECTOR to save the expense of having to replace NuvaRings more often than ...
(Date:11/28/2015)... ... November 28, 2015 , ... Pixel Film Studios is back again ... choose from, the possibilities are endless. Users have full control over angle of view, ... masking effects, users are sure to get heads to turn. , ProPanel: Pulse offers ...
(Date:11/27/2015)... ... 27, 2015 , ... According to an article published November 6th ... the University of British Columbia suggested that laws requiring bicyclists to wear helmets may ... part of the reason for the controversial conclusion is that, while helmets have certainly ...
(Date:11/27/2015)... , ... November 27, 2015 , ... A team of ... ways to treat it. Surviving Mesothelioma has just posted the findings on the website. ... Hospital Zurich analyzed the cases of 136 mesothelioma patients who were treated with chemotherapy ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... 2015 ) ... "Radioimmunoassay Market by Type (Reagents & Kits, ... Clinical Diagnostic Labs), Application (Research, Clinical Diagnostics), ... report to their offering. --> ... of the "Radioimmunoassay Market by Type ...
(Date:11/25/2015)... 2015 ... "Global Brain Monitoring Devices Market 2015-2019" ... ) has announced the addition ... Market 2015-2019" report to their offering. ... ) has announced the addition of ...
(Date:11/25/2015)... THOUSAND OAKS, Calif. , Nov. 25, 2015 /PRNewswire/ ... of a Biologics License Application (BLA) with ... Administration (FDA) for ABP 501, a biosimilar candidate to ... the first adalimumab biosimilar application submitted to the FDA ... biosimilar pathway. Sean E. Harper , M.D., ...
Breaking Medicine Technology: