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:12/2/2016)... 2016 The report "Biometric Vehicle ... Technology (Iris Recognition System), Vehicle Type (Passenger Car, ... to 2021", published by MarketsandMarkets, the market is ... and is projected to grow to USD 854.8 ...      (Logo: http://photos.prnewswire.com/prnh/20160303/792302) ...
(Date:11/29/2016)... 29, 2016   Neurotechnology , a ... recognition technologies, today released FingerCell 3.0, a ... solutions that run on low-power, low-memory microcontrollers. ... less than 128KB of memory, enabling it ... have limited on-board resources, such as: mobile ...
(Date:11/22/2016)... --  MedNet Solutions , an innovative SaaS-based eClinical technology ... is pleased to announce that the company has been ... Awards as "Most Outstanding in eClinical Solutions" for ... recognition and growth for MedNet, which has effectively supported ... iMedNet ™ , MedNet,s flagship eClinical technology ...
Breaking Biology News(10 mins):
(Date:12/6/2016)... and SAN DIEGO , Dec. 6, ... appointment of Santosh Kesari , MD, PhD, FANA, ... leverage his experience in neurology and clinical trials to ... cell for treatment of stroke. The AmnioStem product is a ... has previously shown therapeutic activity in animal models of ...
(Date:12/6/2016)... Dec. 6, 2016  The Texas Medical Center ... Australia (HISA) today announced the establishment of a ... between Australia and the Texas ... HISA and the Texas Medical Center, ... to create a global health innovation ecosystem where emerging ...
(Date:12/5/2016)... -- Axovant Sciences Ltd. (NYSE: AXON ), ... of dementia, today announced that data on the investigational ... will be presented at the 2016 Clinical Trials in ... in San Diego . Intepirdine presentations ... complex measures of activities of daily living (ADLs) and ...
(Date:12/5/2016)... ... December 05, 2016 , ... ... one of the nation’s premier cannabis technology and application experts, Chip Baker. Chip ... of Cultivate Colorado. Over the past 30 years, Chip Baker other industry veterans ...
Breaking Biology Technology: