Navigation Links
Amount of gene surplus determines severity of mental retardation in males
Date:12/11/2009

Leuven, 10 December 2009 -- Researchers have discovered a new explanation for differences in the severity of mental illness in males. The more excess copies of a certain gene, the more serious the handicap. The genetic defect is situated on the X-chromosome; and it is suspected that it is the amount of copies of the GDI1 gene that is responsible. The results are being published in the American Journal of Human Genetics, and are the result of work by the group of Guy Froyen connected to VIB, a life sciences research institute in Flanders, Belgium at the University of Leuven, in close collaboration with Hilde Van Esch of the Center for Human Genetics (University Hospital Leuven) and colleagues in Germany and Spain.

It is for first time that scientists have linked the degree of a mental illness to the number of copies of a gene on the X-chromosome, normally present as a single copy in males. The mental handicap is much more severe in patients with 5 copies than in patients with 2 copies. An intermediate severity has been observed in case of 3 copies. In their publication, the scientists also present a new mechanism by which such defects can arise. This mechanism might also underlie other genetic disorders.

Differences in GDI1 production

Defects in the GDI1 gene have previously been found in a few XLMR (X-Linked Mental Retardation) patients. In these patients, the production of GDI1 in the brain is disturbed, which impedes the transfer of stimuli in the brain. The new finding in this research is that over-production of GDI1 is also harmful. The higher the production, the greater the disruption of signals.

Only in male patients

The discovery was made through DNA research in several families in which only males are afflicted with a mental handicap. In such families, defects appear on the X-chromosome (thus the name X-Linked Mental Retardation). Males have only one version of the X-chromosome. Females have a reserve copy, through which defective information can be masked.

2 - 3% of the population has a mental handicap

Mental handicap occurs in 2 - 3% of the population. The handicap can be attributed to external factors, such as a deficiency in oxygen at birth, or to defects in the DNA. When the cause is genetic (hereditary), exact identification of the defect is crucially important for providing the patient with the proper medical support or for assessing the risk involved for couples with child wish. Recent estimates are that a defect on the X-chromosome is the cause in about 12% of the patients. However, in over half of the XLMR patients, the responsible gene has not yet been identified. This research makes a contribution toward filling this gap in our knowledge.


'/>"/>

Contact: Joris Gansemans
joris.gansemans@vib.be
329-244-6611
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

Related biology technology :

1. Onyx Pharmaceuticals Announces Pricing of Concurrent Offerings of Four Million Shares of Common Stock and $200 Million Principal Amount of Convertible Senior Notes
2. TransTech Services Partners, Inc. Shareholders Approve Plan of Liquidation; Company To Distribute Amounts in Trust
3. ViroPharma Improves Financial Position Through Repurchase of $45 Million Principal Amount of Senior Convertible Notes
4. AlloSource Distributes Record Amount of Tissue in 2008
5. Simbionix Raises Largest Amount in Companys History in Venture Capital to Accelerate Growth
6. Paramount Stockholders Approve Acquisition of Chem Rx
7. Chem Rx to Present at the Paramount BioSciences Healthcare Conference
8. VioQuest Pharmaceuticals to Present at the Paramount BioSciences Healthcare Conference
9. Cutanea to Present at the Paramount BioSciences Healthcare Conference
10. Not the protein, but its location in the cell, determines the onset of leukemia
11. Court Determines that University of Pittsburgh and Artecel Have Sole Rights to Adipose-Derived Stem Cell Patent
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/17/2017)... ... September 17, 2017 , ... ... South Korean Ministry of Food and Drug Safety (KMFDS) for an Investigational New ... the Middle East Respiratory Syndrome coronavirus (MERS-CoV). The study in Korea represents the ...
(Date:9/14/2017)... Lafayette, Ind (PRWEB) , ... ... ... of AMRI’s Global Analytical Services, formally introduces its flexible scientist program (FSP)-- ... offers volume-based, preferred-rate pricing. The FSP, which combines SSCI’s extensive project-based analytical ...
(Date:9/14/2017)... ... September 14, 2017 , ... ... portfolio, clinically-relevant starting and ancillary materials that generate unprecedented efficiencies in adult ... therapies. The CliniControl product portfolio will radically simplify major steps in product ...
(Date:9/14/2017)... ... 2017 , ... AxioMed is pleased to announce the success ... completed the procedure on a 35-year-old female patient suffering from degenerative disc disease ... L5-S1. The patient failed conservative treatments prior to undergoing surgery. , Dr. Yang ...
Breaking Biology Technology:
(Date:4/5/2017)... 4, 2017 KEY FINDINGS The ... at a CAGR of 25.76% during the forecast period ... primary factor for the growth of the stem cell ... MARKET INSIGHTS The global stem cell market ... and geography. The stem cell market of the product ...
(Date:3/30/2017)... NEW YORK , March 30, 2017 ... by type (physiological and behavioral), by technology (fingerprint, AFIS, ... recognition, voice recognition, and others), by end use industry ... travel and immigration, financial and banking, and others), and ... Europe , Asia Pacific ...
(Date:3/24/2017)... Research and Markets has announced the addition ... Trends - Industry Forecast to 2025" report to their offering. ... The Global Biometric ... of around 15.1% over the next decade to reach approximately $1,580 ... market estimates and forecasts for all the given segments on global ...
Breaking Biology News(10 mins):