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
'/>"/>

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

Page: 1 2

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:3/30/2015)... --Research and Markets ( http://www.researchandmarkets.com/research/lc9bnl/global_gesture ) has ... Market in Automotive Sector 2014-2018" report to their ... Recognition market in Automotive Sector to grow at a ... Gesture recognition is the ability of a device to ... Gesture recognition technology can be 2D-based or 3D-based. It ...
(Date:3/24/2015)... 24, 2015 Research and Markets ( http://www.researchandmarkets.com/research/kvdtcw/face_and_voice ) ... - Global Strategic Business Report" report to their offering. ... Biometrics in US$ Thousands by the following Segments: Face Biometrics, and ... Canada , Japan , ... Middle East & Africa , and ...
(Date:3/23/2015)... , March 23, 2015 SoundView Technology Group issues ... (NASDAQ: NXTD ) Wocket smart wallet. SoundView was one of ... on their experience with the Wocket in multiple scenarios and ... Whole Foods and other retailers, making both debit and credit ... also says, "If the company meets their plans in ...
Breaking Biology News(10 mins):Global Gesture Recognition Market in Automotive Sector Report 2015 - Growing Number of Partnerships 2Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 2Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 3Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 4Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 5Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 6Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 2Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 3Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 4
... Stat1, which is involved in cellular immune signaling, scientists have ... efficient. This old protein with a new twist may eventually ... , Stat1 is involved in immune responses that are initiated ... the cells of the immune system in response to challenges ...
... have demonstrated that the brains of alcoholics are ... brains. Symposium speakers at the October 2004 Congress ... Alcoholism in Mannheim, Germany reviewed what is known ... alcohol-related brain shrinkage. Proceedings are published in the ...
... require accurate transmission. Big genes are especially challenging ... lie between long stretches of non-coding elements (introns). ... pasted together to form a template for proteins ... can reduce the expression of a functional protein ...
Cached Biology News:Engineered molecule amplifies body's immune response 2Engineered molecule amplifies body's immune response 3Investigating 'brain shrinkage' in alcoholics 2Investigating 'brain shrinkage' in alcoholics 3Investigating 'brain shrinkage' in alcoholics 4Investigating 'brain shrinkage' in alcoholics 5Carnegie Mellon University research reveals how cells process large genes 2Carnegie Mellon University research reveals how cells process large genes 3
(Date:4/23/2015)... Proove Biosciences , a commercial ... to announce the launch of Proove Non-Opioid ... 62 genetic variations to predict good versus poor ... non-opioid pain medications, namely ibuprofen (brand name Advil, ... Xanax) and acetaminophen (brand name Tylenol). , ...
(Date:4/23/2015)... Texas (PRWEB) April 23, 2015 ReliantHeart's ... True Flow (blood flow through the device) in real ... by Numerex, the world’s leading provider of Machine to ... , True Flow via VADLink.com can ... there is any drop in flow below a minimum ...
(Date:4/22/2015)... , April 22, 2015 /PRNewswire/ - BioAmber Inc. (NYSE and EURONEXT Paris:BIOA) today ... first quarter 2015 on Thursday, May 7, 2015 after ... a webcast and conference call for 4.30 pm ET ... Live audio of the conference call will be ... investors, members of the news media and the general ...
(Date:4/22/2015)... 2015 2015 HIMSS Annual Conference & ... of the 9th annual Venture+ Forum pitch competition for ... selected to deliver live pitch presentations to a panel ... HIMSS15 held last week in Chicago ... professionals and 1,200 exhibiting companies from around the world, ...
Breaking Biology Technology:Proove Biosciences Launches World’s First Test to Predict Responders to Commonly Prescribed Non-Opioid Pain Medications 2Proove Biosciences Launches World’s First Test to Predict Responders to Commonly Prescribed Non-Opioid Pain Medications 3BioAmber Announces Webcast of Fiscal First Quarter 2015 Financial Results 2TowerView Health Named Venture+ Forum Pitch Competition Winner At HIMSS15 2TowerView Health Named Venture+ Forum Pitch Competition Winner At HIMSS15 3