Navigation Links
Genetic defect found to cause severe epilepsy and mental retardation
Date:10/12/2010

BEER-SHEVA, Israel, October 12, 2010 A research team at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel has detected a genetic mutation resulting in a progressive disease of severe mental retardation and epilepsy beginning at infancy. The research was just published in the American Journal of Human Genetics.

The team, led by BGU Prof. Ohad Birk of the National Institute for Biotechnology in the Negev determined that the defect is associated with the production of the 21st amino acid, selenocysteine (SEC), which leads to progressive brain atrophy.

According to Prof. Birk, "One out of every 40 Jews of both Moroccan and Iraqi ancestry may be carriers of this mutation. As the disease is both severe and common, testing for these mutations is expected to become a routine prenatal genetic screening test in these two populations, enabling prevention of future cases."

It is believed that further research will identify other mutations in the same gene as the cause of mental retardation with epilepsy in other communities. As the disease is progressive, elucidation of its molecular mechanisms might open new venues to treatment, preventing disease progression.

The human genetic code, as deciphered some 50 years ago, encodes 20 amino acids which are the building blocks of all proteins in the human body. However, in recent years it became apparent that a 21st amino acid exists: selenium, entering the body in food, is incorporated in the human tissues into what is known as selenocysteine.

This 21st amino acid is unique in that it is encoded by what is normally a stop codon that is, a DNA sequence that normally instructs the protein building system to end the chain of amino acids, terminating the generated protein. In contrast with most genes, some 25 genes have a unique component that manipulates the stop codon so that instead of terminating the evolving protein chain, it inserts at that point an SEC building block.


'/>"/>

Contact: Andrew Lavin
andrewlavin@alavin.com
516-944-4486
American Associates, Ben-Gurion University of the Negev
Source:Eurekalert

Related biology news :

1. FDA funds pediatric trial testing genetically reprogrammed HSV to treat cancer
2. Studies provide new insights into the genetics of obesity and fat distribution
3. Study reveals cancer-linked epigenetic effects of smoking
4. Twins provide clue that genetic epilepsy can originate in the embryo
5. Researchers find first genetic evidence for loss of teeth in the common ancestor of baleen whales
6. Notre Dame and Wyoming scientists genetically engineer silkworms to produce artificial spider silk
7. Insecticides from genetically modified corn present in adjacent streams
8. Light workout: Stanford scientists use optogenetics to effectively stimulate muscle movement in mice
9. Genetic ancestry: A new look at racial disparities in head and neck cancer
10. Genetic clues to evolution of jaws in vertebrates unearthed by CU-led team
11. Hard-wired for chocolate and hybrid cars? How genetics affect consumer choice
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... June 27, 2016 Research and Markets has ... 2016-2020" report to their offering. ... America to grow at a CAGR of 12.28% during ... based on an in-depth market analysis with inputs from industry experts. ... the coming years. The report also includes a discussion of the ...
(Date:6/22/2016)... BETHESDA, Md. , June 22, 2016  The American ... by Trade Show Executive Magazine as one of ... Summit on May 25-27 at the Bellagio in ... based on the highest percentage of growth in each of ... number of exhibiting companies and number of attendees. The 2015 ...
(Date:6/22/2016)... LOS ANGELES , June 22, 2016 ... of identity management and verification solutions, has ... cutting edge software solutions for Visitor Management, ... ® provides products that add functional ... The partnership provides corporations and venues with ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... , June 27, 2016  Liquid Biotech ... announced the funding of a Sponsored Research Agreement ... circulating tumor cells (CTCs) from cancer patients.  The ... in CTC levels correlate with clinical outcomes in ... These data will then be employed to support ...
(Date:6/24/2016)... NY (PRWEB) , ... June 24, 2016 , ... While ... machines such as the Cary 5000 and the 6000i models are higher end machines ... is the height of the spectrophotometer’s light beam from the bottom of the cuvette ...
(Date:6/23/2016)... 23, 2016   Boston Biomedical , an ... designed to target cancer stemness pathways, announced that ... Orphan Drug Designation from the U.S. Food and ... cancer, including gastroesophageal junction (GEJ) cancer. Napabucasin is ... inhibit cancer stemness pathways by targeting STAT3, and ...
(Date:6/23/2016)... ... June 23, 2016 , ... Charm Sciences, ... microbial test has received AOAC Research Institute approval 061601. , “This is another ... year,” stated Bob Salter, Vice President of Regulatory and Industrial Affairs. “The Peel ...
Breaking Biology Technology: