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:9/2/2014)... team of University of Maryland physicists has published ... say make possible new nanostructures and nanotechnologies with ... quantum computing advances to new sensor development. , ... Nature Communications the Maryland scientists, primary discovery ... nanostructures that uses a connector, or "intermedium," nanoparticle ...
(Date:9/2/2014)... always true that digital distribution of media will ... means, at least when file sizes are large. ... in Yale,s Journal of Industrial Ecology ... for consoles such as PlayStation3. Researchers found that ... greenhouse gas emissions than game files downloaded over ...
(Date:9/2/2014)... study provides evidence that physical barriers formed ... argue that the same factor responsible for much ... also responsible for the linguistic diversity in the ... interaction between speech communities. Therefore, spatially isolated languages ... reduction of linguistic contact. , "Charles Darwin would ...
Breaking Biology News(10 mins):New synthesis method may shape future of nanostructures, clean energy 2New synthesis method may shape future of nanostructures, clean energy 3
... is available in French . , University ... reproductive process in plants. Gravity modulates traffic on the intracellular ... reproductive organ in plants, the pollen tube. "Just like during ... the egg by a cylindrical tool. Unlike the delivery tool ...
... Affordable Care Act requires all chain restaurants and retail ... calorie counts on their menus. But according to research ... calorie labels might not be the most effective way ... lower-calorie) items. Brenna Ellison, a professor of agricultural ...
... Valley of Kenya, the Maasai people, their livestock and ... lions and bat-eared foxes, are coexisting fairly happily according ... researchers. "I wouldn,t call the results surprising," said ... of Florida in the Center for Systems Integration and ...
Cached Biology News:Sex at zero gravity 2Symbols, such as traffic lights, on menus effective in educating diners 2Symbols, such as traffic lights, on menus effective in educating diners 3Symbols, such as traffic lights, on menus effective in educating diners 4Carnivores, livestock and people manage to share same space study finds 2
(Date:9/2/2014)... September 02, 2014 Opertech Bio, ... highly efficient, cost effective approach to sensory evaluation, ... 8,820,265 by the U.S. Patent and Trademark Office, ... , “Opertech’s taste evaluation technology called ... automated high throughput system for rapid characterization of ...
(Date:9/2/2014)... 2, 2014 /PRNewswire/ - BIOREM Inc. (TSXV: BRM) ("Biorem" or "the ... orders consist of three large odour control systems for waste ... "These orders are consistent with the market resurgence in ... , President and CEO. "After a difficult period of restraint ... beginning to see sales growth. Our lower cost structure, technology ...
(Date:9/1/2014)... , Sept. 1, 2014 Reportlinker.com ... available in its catalogue: India Solid ... http://www.reportlinker.com/p02350445/India-Solid-Waste-Management-Vehicles-Market-Forecast-and-Opportunities-2019.html ... are the main governing bodies responsible for complete ... cities. On an average, around 135,000 MT solid ...
(Date:8/31/2014)... August 31, 2014 2014 ... is a professional and in-depth research report ... basic Polyacrylamide information, including Polyacrylamide definition, classification, ... as industry overview. This research covers the ... well as global industry analysis covering macroeconomic ...
Breaking Biology Technology:Opertech Bio Receives U.S. Patent for High-Throughput Taste Evaluation Technology 2India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 2India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 3India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 4India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 5India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 6India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 7India Solid Waste Management Vehicles Market Forecast and Opportunities, 2019 8International Polyacrylamide Industry & Copper Iodide Market Data Analysis Now Available at DeepResearchReports.com 2International Polyacrylamide Industry & Copper Iodide Market Data Analysis Now Available at DeepResearchReports.com 3
... , , ... pesticide residues in food and environmental samples requires the use ... technologies. In this , application note the benefits ... is described. In particular the role of the collision cell in the MS/MS , ...
... This paper addresses managers in different industries and describes the ... increases productivity, and touches upon subjects such as ease of use, ... also describes the main criteria managers should consider when choosing the ... Table of Contents: , ...
... by Erwin Hauser, Chief Engineer, KNF Neuberger, ... Introduction , ... drying operations, condensate may collect in the vacuum pump head. Consequently, the ... evacuate the designated volume. New, self-drying pumps clear moisture from the ...
Cached Biology Technology:Fast Multi-Residue Pesticide Analysis in Soil and Vegetable Samples 2Fast Multi-Residue Pesticide Analysis in Soil and Vegetable Samples 3Fast Multi-Residue Pesticide Analysis in Soil and Vegetable Samples 4Increase Your Organizations Productivity with LabVIEW 2Increase Your Organizations Productivity with LabVIEW 3Increase Your Organizations Productivity with LabVIEW 4Increase Your Organizations Productivity with LabVIEW 5Increase Your Organizations Productivity with LabVIEW 6Increase Your Organizations Productivity with LabVIEW 7Increase Your Organizations Productivity with LabVIEW 8Increase Your Organizations Productivity with LabVIEW 9Increase Your Organizations Productivity with LabVIEW 10Increase Your Organizations Productivity with LabVIEW 11Increase Your Organizations Productivity with LabVIEW 12Increase Your Organizations Productivity with LabVIEW 13Increase Your Organizations Productivity with LabVIEW 14Increase Your Organizations Productivity with LabVIEW 15Increase Your Organizations Productivity with LabVIEW 16Self-Drying Vacuum Pumps... the solution for applications producing condensation 2Self-Drying Vacuum Pumps... the solution for applications producing condensation 3Self-Drying Vacuum Pumps... the solution for applications producing condensation 4
... The kit was tested on rat tissue extracts ... yeast ( S. cerevisae ) extract. It was ... tissues and cell lines. Application: A simple and ... fractions based on the detection of the inorganic ...
... CAST Equine EIA Principle: ... LTC4, LTD4 and LTE4 are ... by 5-lipoxygenase and glutathione-S-transferase. In ... termed "Slow Reacting Substances of ...
... stress is the condition in which a ... stimuli and the various antioxidants. Oxidative ... pathogenesis of several diseases, including artherosclerosis, chronic ... possesses several antioxidant systems that are very ...
... tested through 63 ligand ... spanning a broad therapeutic ... includes many non human ... non-selective assays. Used ...
Biology Products: