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:4/17/2014)... need to produce hydrogen sulfide in order to properly ... study from the Center for Craniofacial Molecular Biology at ... Professor Songtao Shi, principal investigator on the project, said ... governs the flow of calcium ions. The essential ions ... osteogenesis, or the creation of new bone tissue, and ...
(Date:4/17/2014)... of forests in the Amazon help create tinderbox ... rapid and widespread forest loss during drought years, ... show that forests in the Amazon could reach ... forest fires lead to large-scale loss of trees, ... professor of geography, Penn State. , "We documented ...
(Date:4/17/2014)... Indiana University researchers have detected new early-warning signs of ... discovery could have far-reaching implications for the diagnosis and ... over 25 million Americans. , "We had not expected ... such early stages," said Ann Elsner, professor and associate ... author of the study. "We set out to study ...
Breaking Biology News(10 mins):Drought and fire in the Amazon lead to sharp increases in forest tree mortality 2Drought and fire in the Amazon lead to sharp increases in forest tree mortality 3New technique detects microscopic diabetes-related eye damage 2New technique detects microscopic diabetes-related eye damage 3
... (Washington, DC) The American Society for Bone and ... scientific meeting in the world on bone and mineral ... research, technology and new clinical treatments in bone diseases ... year,s Annual Meeting, being held in Baltimore, MD USA, ...
... 2013, Cleveland: Cleveland Clinic,s 8th Annual Obesity Summit will bring ... 17, 2013, at the InterContinental Hotel and Bank of America ... the escalating obesity epidemic in the United States. ... every six children are obese. In addition to causing health ...
... been vilified for detrimental effects to water quality and fish ... "ecological and engineering resilience" to climate change in the Columbia ... Canadian journal Atmosphere-Ocean , looked at the effects of ... reaches of seven sub-basins of the Columbia River from 1950 ...
Cached Biology News:American Society for Bone and Mineral Research Annual Meeting Oct. 4-7 2Cleveland Clinic's 2013 Obesity Summit explores causes, prevention and treatment of obesity 2Dams provide resilience to Columbia River basin from climate change impacts 2
(Date:1/15/2014)... FALLS, N.Y., Jan. 15, 2014   Niagara Thermal Products ... selected by Buffalo BioBlower Technologies LLC ("B3") as the ... Phase 2 award from the Army Corps of Engineers.  ... that kills all biological contaminants and destroys VOCs and ...
(Date:1/15/2014)... 2014 Cynvenio, a cancer diagnostics company ... genomic analysis of tumor cells in the bloodstream, today ... cancer decision support application powered by CollabRx, Inc. ... genomic test, Therapy Finder will provide breast cancer patients ...
(Date:1/15/2014)... 2014 ­ RedBrick Health , a fast-growing leader ... announces that EmblemHealth , the New ... now providing the RedBrick Compass health assessment, combined with ... of its members. EmblemHealth is among the first health ...
(Date:1/15/2014)... , January 15, 2014 A study ... races on the Formula 1 track could help to tackle ... Applied Technologies (MAT), Stowhealth (a GP surgery based in Stowmarket) ... healthcare provider Simplyhealth. Telemetry technology, which is inspired ...
Breaking Biology Technology:Niagara Thermal Products LLC Selected as Critical Supplier for Buffalo BioBlower Air Purification Systems 2Cynvenio Offers New Breast Cancer Therapy Finder Application for its ClearID Breast Cancer Genomic Test 2Cynvenio Offers New Breast Cancer Therapy Finder Application for its ClearID Breast Cancer Genomic Test 3EmblemHealth Selects RedBrick Health to Power its Next-Generation Health Engagement and Behavior Change System 2EmblemHealth Selects RedBrick Health to Power its Next-Generation Health Engagement and Behavior Change System 3Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 2Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 3Formula 1 Technology Tackles Obesity in Unique Healthcare Partnership 4
... a provider of health-care and business technology, announced a seven-year ... Medicaid Management Information System (MMIS). The new system is expected ... in November, contracts EDS to implement its InterChange health system ... and Family Services . The contract is worth approximately $189 ...
... Inc. , a provider of education products in Wisconsin ... subsidiary's president, John Stearns. , ,Generation21 lost $4.6 million ... Renaissance Learning said it had looked for strategic alternatives ... to Stearns was its best option. , ,The company ...
... Greenspan, chairman of the Federal Reserve Bank, is famous ... (and sounding smart doing it). Recently however, he managed ... skills problem that now exists within the American workforce. ... his semi-annual report to Congress on February 12, 2005 ...
Cached Biology Technology:State picks long-time vendor for $189m Medicaid information system 2Is America prepared to win the global skills race? 2Is America prepared to win the global skills race? 3Is America prepared to win the global skills race? 4
... Roche Applied Science, which pioneered the ... Expand High Fidelity and Expand Long Template ... FidelityPLUS PCR System the first product ... This new blend combines Taq DNA ...
The HEPTEST assays provide a sensitive, simple, rapid, and convenient in vitro quantitation of heparin, low molecular weight heparins, and heparinoids in plasma and whole blood. Sample Type: wh...
...
... Synergistic enzyme mix (Thermoprime Plus DNA Polymerase ... least four times higher fidelity than standard ... standard Taq DNA polymerase, Amplifies DNA templates ... long PCR, PCR for cloning and mutagenesis ...
Biology Products: