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:4/11/2017)... BROOKLYN, N.Y. , April 11, 2017 /PRNewswire-USNewswire/ ... identical fingerprints, but researchers at the New York ... University College of Engineering have found that partial ... fingerprint-based security systems used in mobile phones and ... previously thought. The vulnerability lies in ...
(Date:4/5/2017)... KEY FINDINGS The global market for stem ... 25.76% during the forecast period of 2017-2025. The rise ... growth of the stem cell market. Download ... The global stem cell market is segmented on the ... cell market of the product is segmented into adult ...
(Date:3/30/2017)... 2017 Trends, opportunities and forecast in this ... technology (fingerprint, AFIS, iris recognition, facial recognition, hand geometry, ... end use industry (government and law enforcement, commercial and ... and others), and by region ( North America ... Asia Pacific , and the Rest of the ...
Breaking Biology News(10 mins):
(Date:7/18/2017)... ... 18, 2017 , ... Blood centers traditionally see a dangerous drop of blood ... a struggle for community blood centers as high schools are out and many frequent ... is teaming up with the South Texas Blood & Tissue Center ...
(Date:7/17/2017)... ... ... The Academy of Model Aeronautics (AMA) will host Aviation Adventure Day on August ... 9 a.m. to 2 p.m. at the International Aeromodeling Center in Muncie, Indiana. The ... will be packed with entertaining activities for the entire family. Attendees will learn while ...
(Date:7/17/2017)... ... July 17, 2017 , ... Panitch Schwarze Belisario ... in the BiG (Biomedical Innovation Group) annual meeting in China. , This year’s ... antigen receptor T-cell) therapy, a rapidly developing highly personalized anti-cancer technology that involves ...
(Date:7/16/2017)... ... 16, 2017 , ... OHAUS Corporation, a leading worldwide manufacturer ... new line of Extreme Environment Shakers today. , Extreme Environment Shakers , OHAUS ... optimal cell growth such as cell cultures, solubility studies and extraction procedures. These ...
Breaking Biology Technology: