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
(416) 813-5046
The Hospital for Sick Children

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:
TAG: Scientists Find Gene For Severe Form Epilepsy

(Date:9/24/2015)... Publiceringsförbud fram till: ... Kerv ( http://kerv.com ), det Londonbaserade ... första kontaktlösa betalningsring på kickstarter.com i ett ... för massproduktion via crowdfunding.       ... Kerv-bärare kan göra direkta kontaktlösa betalningar ...
(Date:9/10/2015)... Sept. 10, 2015 Pursuant Health has ... to create an interactive, image-based health risk assessment ... wellness kiosk.  The unique assessment quantifies user results ... that suggests an individual,s biological age based on ... measured by the kiosk. Comprised of ...
(Date:9/8/2015)... , Sept. 8, 2015  Affectiva, global ... Emotion as a Service, a new data solution, ... Based on Affectiva,s highly accurate and patented ... analytics capabilities, slated to transform industries such as ... development, retail, customer experience, online education, HR, automotive, ...
Breaking Biology News(10 mins):
(Date:10/9/2015)... Governor Tom Wolf announced today that Adaptimmune ... T-cell receptor cancer immunotherapy treatments, will create at least ... Pennsylvania , and today,s announcement ... high-paying jobs will be created with this project," said ... sustained funding for the life science sector and increased ...
(Date:10/9/2015)... Oct. 9, 2015  DePuy Synthes Trauma* announced today ... Q-PACK ®  Technology**, the only pre-hydrated demineralized cancellous ... procedures (foot and ankle, hand and wrist), including fusion, ... here at the 2015 Orthopaedic Trauma Association (OTA) Annual ... scaffold for new bone growth) and osteoinductive 2,3 ...
(Date:10/9/2015)... ... October 09, 2015 , ... ... the current methods of separating those cells from their surroundings for research, diagnostics, ... the cells. , To address this, Ann Arbor-based startup Akadeum Life Sciences ...
(Date:10/8/2015)... ... October 08, 2015 , ... Researchers at the University of Washington (UW) ... providing a new tool to study how diseases like dementia, Alzheimer's, and brain tumors ... and Ruikang Wang of the UW Department of Bioengineering, today in the Journal ...
Breaking Biology Technology:
Cached News: