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 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 c omments. "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.


'"/>

Source:University of Chicago Press Journals


Related biology news :

1. Rush Physicians Using Gene Therapy For Heart Patients With Moderate To Severe Chest Pains Who Do Not Benefit From Other Treatments
2. Fundamental Finding Yields Insight into Stem Cells, Cancer; Opens Door to Drug Discovery
3. NIAID Initiates Trial of Experimental Avian Flu Vaccine
4. Study reveals new technique for fingerprinting environmental samples
5. Compounds in plastic packaging act as environmental estrogens altering breast genes
6. Protein prevents detrimental immune effects of bacterial sepsis
7. Gene keeps neural cells on correct developmental path
8. UN environmental agency steps up battle against marine pollution
9. Agilent Technologies introduces advanced zebrafish, mouse microarrays for stem cell and developmental biology research
10. Grass makes environmentally friendly biofuel
11. Stem cells grown in lab mirror normal developmental steps
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/14/2017)... June 15, 2017  IBM (NYSE: IBM ) is introducing ... event dedicated to developing collaboration between startups and global businesses, ... 15-17. During the event, nine startups will showcase the solutions ... various industries. France ... market, with a 30 percent increase in the number of ...
(Date:5/16/2017)... 16, 2017  Veratad Technologies, LLC ( www.veratad.com ), ... and identity verification solutions, announced today they will participate ... May 15 thru May 17, 2017, in ... Trade Center. Identity impacts the lives ... today,s quickly evolving digital world, defining identity is critical ...
(Date:5/6/2017)... 5, 2017 RAM Group , ... new breakthrough in biometric authentication based on a ... properties to perform biometric authentication. These new sensors are ... created by Ram Group and its partners. This sensor ... supply chains and security. Ram Group is a ...
Breaking Biology News(10 mins):
(Date:9/21/2017)... , ... September 21, 2017 , ... ... office, which includes executive, engineering and manufacturing functions to The LaunchPort™ Accelerator at ... Factory™, provide a full range of manufacturing and business services to its Residents. ...
(Date:9/21/2017)... (PRWEB) , ... September 21, 2017 , ... ... clinical client portal. Each relaunch of the portal includes new features that facilitate ... medical device companies seek to remain at the forefront of medical advancements, they ...
(Date:9/21/2017)... , ... September 21, 2017 , ... ... neon green this month, the response was swift and efficient thanks to the ... ). RRWQG is made up of more than 50 stakeholders, including officials from ...
(Date:9/20/2017)... ... September 20, 2017 , ... ... with Koch Agronomic Services (Koch) to feature new innovations aimed at helping farmers ... first quarter 2018. American Farmer airs Tuesdays at 8:30aET on RFD-TV. Check your ...
Breaking Biology Technology: