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:5/25/2016)... ... May 25, 2016 , ... The American Medical Informatics Association ... the National Coordinator for Health IT (ONC) outlining a measurement approach to interoperability ... available when and where it was needed. The organization of health informatics professionals ...
(Date:5/25/2016)... ... May 25, 2016 , ... WEDI, the nation’s leading authority on the use ... W. Stellar has been named by the WEDI Board of Directors as WEDI’s president ... executive leader with more than 35 years of experience in healthcare, association management and ...
(Date:5/25/2016)... (PRWEB) , ... May 25, 2016 , ... ... U.S. Food and Drug Administration (FDA) has granted the company’s orphan drug designation ... company’s second orphan drug designation granted by the FDA. , Spinocerebellar ataxia ...
(Date:5/24/2016)... --  MedyMatch Technology Ltd ., the data analytics healthcare company ... tools in the emergency room, announced today that it has ... Industries (IATI) BioMed Conference. The Conference is ... Life Sciences and Technology Week, and is being held May ... Tel Aviv, Israel . Gene Saragnese , ...
Breaking Biology Technology:
(Date:4/15/2016)... April 15, 2016  A new partnership announced ... accurate underwriting decisions in a fraction of the ... priced and high-value life insurance policies to consumers ... With Force Diagnostics, rapid testing (A1C, Cotinine ... readings (blood pressure, weight, pulse, BMI, and activity ...
(Date:4/14/2016)... Israel , April 14, 2016 ... Authentication and Malware Detection, today announced the appointment of ... assumed the new role. Goldwerger,s leadership appointment ... on the heels of the deployment of its platform ... BioCatch,s behavioral biometric technology, which discerns unique cognitive and ...
(Date:3/31/2016)... RATON, Florida , March 31, 2016 ... LEGX ) ("LegacyXChange" or the "Company") ... for potential users of its soon to be launched ... video ( https://www.youtube.com/channel/UCyTLBzmZogV1y2D6bDkBX5g ) will also provide ... the use of DNA technology to an industry that ...
Breaking Biology News(10 mins):