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:5/16/2016)... , May 16, 2016   EyeLock LLC ... today announced the opening of an IoT Center of ... strengthen and expand the development of embedded iris biometric ... unprecedented level of convenience and security with unmatched biometric ... one,s identity aside from DNA. EyeLock,s platform uses video ...
(Date:5/9/2016)... DUBAI , UAE, May 9, 2016 ... choice when it comes to expanding freedom for high ... Even in today,s globally connected world, there ... online conferencing system could ever duplicate sealing your deal ... are obtaining second passports by taking advantage of citizenship ...
(Date:4/28/2016)... and BANGALORE, India , April 28, 2016 ... a product subsidiary of Infosys (NYSE: INFY ), ... a global partnership that will provide end customers ... mobile banking and payment services.      (Logo: ... innovation area for financial services, but it also plays a ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... , June 23, 2016   EpiBiome , ... secured $1 million in debt financing from Silicon Valley ... up automation and to advance its drug development efforts, ... new facility. "SVB has been an incredible ... the services a traditional bank would provide," said Dr. ...
(Date:6/23/2016)... , June 23, 2016 Apellis ... Phase 1 clinical trials of its complement C3 ... single and multiple ascending dose studies designed to ... (PD) of subcutaneous injection in healthy adult volunteers. ... (SC) either as a single dose (ranging from ...
(Date:6/23/2016)... ... June 23, 2016 , ... ClinCapture, the only free validated ... will showcase its product’s latest features from June 26 to June 30, 2016 ... on Disrupting Clinical Trials in The Cloud during the conference. DIA (Drug ...
(Date:6/23/2016)... , June 23, 2016 ... research report to its pharmaceuticals section with historic ... details and much more. Complete report ... 151 pages, profiling 15 companies and supported with ... http://www.reportsnreports.com/reports/601420-global-cell-culture-media-industry-2016-market-research-report.html . The Global ...
Breaking Biology Technology:
Cached News: