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:3/9/2017)... , March 9, 2017 4Dx has publicly ... Lung Imaging Workshop at the University of Pennsylvania. Founder ... to deliver the latest data to world leaders in ... brings together leaders at the forefront of the industry ... imaging. "The quality of the imaging ...
(Date:3/6/2017)... , March 6, 2017 ... sales technology, today announced Predictive Sales Coach TM ... infusing actionable sales intelligence into Salesforce. This unique ... enable their sales organizations with deep knowledge of ... allow for intelligent engagement. Predictive Sales Coach extends ...
(Date:3/2/2017)... 2017 Australian stem cell and regenerative medicine ... signed an agreement with the Monash Lung Biology Network, ... Institute and Department of Pharmacology at Monash University, ... study to support the use of Cymerus™ mesenchymal stem ... Asthma is a chronic, long term lung condition ...
Breaking Biology News(10 mins):
(Date:3/29/2017)... NEWARK, Del. , March 29, 2017 ... medicine company, and W. L. Gore & ... announced a collaborative research agreement whereby the two companies ... delivery device technologies that provide protection from immune rejection. ... has been developing innovative stem cell-derived cell replacement therapies ...
(Date:3/29/2017)... -  GeneNews Limited (TSX:GEN) ("GeneNews" or the "Company") announced ... stratification test for breast cancer, via its Virginia ... incorporates a blood-based biomarker test with a sophisticated algorithm to ... cancer.   ... BreastSentry measures the fasting plasma levels of two biomarkers ...
(Date:3/29/2017)... 2017 The Global Microfluidic Chips Market by ... specialized and comprehensive study on the existing state of the global ... Europe and Asia-Pacific , ... and Africa . ... Browse 172 Tables and Figures, 13 Major ...
(Date:3/28/2017)... Hong Kong (PRWEB) , ... March 28, 2017 ... ... has selected NetDimensions Learning to replace paper-based processes and enhance training plan management ... “We are very pleased to partner with the SHL Group to help improve ...
Breaking Biology Technology: