HOME >> BIOLOGY >> NEWS
Scientists Find Gene For Severe Form Of Epilepsy

TORONTO -- An international research team led by Dr. Steve Scherer, of The Hospital for Sick Children (HSC) and the University of Toronto (U of T) has identified a gene responsible for one of the most severe forms of epilepsy, known as Lafora disease (LD). The discovery is reported in the October issue of the prestigious scientific journal Nature Genetics.

"With approximately 40 million affected people worldwide, epilepsy is one of the most common neurological disorders," explains Scherer, a scientist in the Genetics and Genomic Biology program and the Centre for Applied Genomics at HSC and an Assistant Professor of Molecular and Medical Genetics at the U of T. "Lafora disease occurs during late childhood or early adolescence and is characterized by seizures and progressive neurological degeneration. Death usually occurs within a decade of the first symptoms."

While Lafora disease is rare in Canada, it is more common in Mediterranean countries and in Turkey, India and Iran.

Fifty years of investigation led biochemists to suspect that LD was caused by problems with carbohydrate metabolism in the brain. Beyond this, however, the fundamental defect triggering the malfunction was unknown. "Identifying the LD gene gives us the key to open the 'door' of the cell so we can determine the cause of the seizures," says Scherer.

The LD gene produces a signalling protein which is thought to be involved in the brain's breakdown of carbohydrates. The defective gene interferes with this process, leading to the accumulation of abnomal sugar molecules which likely lead to the destruction of the brain's nerve cells. Interestingly, accumulations of apparently the same composition are also found in normal aged brains with no obvious consequence.

"This discovery opens an entire new area of research into not only epilepsy but also normal brain function," says Dr. Berge Minassian, a neurologist at HSC and key scientist in the study. "While signalling molecules simil
'"/>

Contact: Liz Leake
liz.leake@sickkids.on.ca
(416) 813-5046
The Hospital for Sick Children
29-Sep-1998


Page: 1 2

Related biology news :

1. Scientists to prototype cyberinfrastructure for research and education access to ocean observatories
2. Scientists sequence genome of kind of organism central to biospheres carbon cycle
3. Scientists find nanowires capable of detecting individual viruses
4. Scientists discover potential new way to control drug-resistant bacteria
5. Scientists explore genome of methane-breathing microbe
6. Scientists decipher genetic code of biothreat pathogen
7. Stuck on you: Scientists lay bare secrets of bacterial attachment proteins
8. Scientists discover proteins involved in spread of HIV-1 infection
9. Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
10. Scientists reinvent DNA as template to produce organic molecules
11. Scientists visualise cellular handmaiden that restores shape to proteins

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/14/2017)... (NYSE: IBM ) is introducing several innovative partner startups ... collaboration between startups and global businesses, taking place in ... nine startups will showcase the solutions they have built with ... France is one of the ... percent increase in the number of startups created between 2012 ...
(Date:5/16/2017)... 16, 2017   Bridge Patient Portal , ... MD EMR Systems , an electronic medical ... GE, have established a partnership to build an ... the GE Centricity™ products, including Centricity Practice Solution ... These new integrations will allow healthcare delivery ...
(Date:4/19/2017)... New York , April 19, 2017 ... competitive, as its vendor landscape is marked by the ... the market is however held by five major players ... Safran. Together these companies accounted for nearly 61% of ... of the leading companies in the global military biometrics ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... platform specifically designed for life science researchers to analyze and interpret datasets, ... Franklin, who made a major contribution to the discovery of the double-helix ...
(Date:10/11/2017)... ... ... Personal eye wash is a basic first aid supply for any work environment, but most ... you rinse first if a dangerous substance enters both eyes? It’s one less decision, and ... unique dual eye piece. , “Whether its dirt and debris, or an acid or alkali, ...
(Date:10/11/2017)... , Oct. 11, 2017  VMS BioMarketing, a leading ... a nationwide oncology Clinical Nurse Educator (CNE) network, which will ... need for communication among health care professionals to enhance the ... nurses, office staff, and other health care professionals to help ... breast cancer. ...
(Date:10/11/2017)... ... October 11, 2017 , ... ... implantation and pregnancy rates in frozen and fresh in vitro fertilization (IVF) ... and maternal age to IVF success. , After comparing the results from the ...
Breaking Biology Technology:
Cached News: