Featured Research

from universities, journals, and other organizations

Scientists Find Gene For Severe Form Of Epilepsy

Date:
September 29, 1998
Source:
The Hospital For Sick Children
Summary:
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).

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 similar to the LD gene have been associated with forms of cancer, this is the first description of such a protein causing a neurological disease."

Identifying the LD gene will now enable scientists to develop accurate genetic diagnostic tools. "Ultimately, we hope that understanding the basic genetic defect will allow us to, not only discover the basic mechanisms that underly the severe epilepsy in this disorder, but also to correct the disease by gene therapy or other therapeutic treatments," explains Dr. Carter Snead, HSC's head of Neurology, Brain and Behaviour Research, holder of the Bloorview Childrens Hospital Chair in Paediatric Neuroscience, and Professor of Paediatrics and Medicine, U of T.

The Centre for Applied Genomics was established at The Hospital for Sick Children in July 1998 and conducts research focused on DNA sequencing and chromosome mapping, disease gene discovery, and bioinformatics.

This research was supported by grants from the Medical Research Council of Canada and The Hospital for Sick Children Foundation.


Story Source:

The above story is based on materials provided by The Hospital For Sick Children. Note: Materials may be edited for content and length.


Cite This Page:

The Hospital For Sick Children. "Scientists Find Gene For Severe Form Of Epilepsy." ScienceDaily. ScienceDaily, 29 September 1998. <www.sciencedaily.com/releases/1998/09/980929072906.htm>.
The Hospital For Sick Children. (1998, September 29). Scientists Find Gene For Severe Form Of Epilepsy. ScienceDaily. Retrieved August 21, 2014 from www.sciencedaily.com/releases/1998/09/980929072906.htm
The Hospital For Sick Children. "Scientists Find Gene For Severe Form Of Epilepsy." ScienceDaily. www.sciencedaily.com/releases/1998/09/980929072906.htm (accessed August 21, 2014).

Share This




More Health & Medicine News

Thursday, August 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Possible Ebola Patient in Isolation at California Hospital

Possible Ebola Patient in Isolation at California Hospital

Reuters - US Online Video (Aug. 20, 2014) — A patient who may have been exposed to the Ebola virus is in isolation at the Kaiser Permanente South Sacramento Medical Center. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Raw: World's Oldest Man Lives in Japan

Raw: World's Oldest Man Lives in Japan

AP (Aug. 20, 2014) — A 111-year-old Japanese was certified as the world's oldest man by Guinness World Records on Wednesday. Sakari Momoi, a native of Fukushima in northern Japan, was given a certificate at a hospital in Tokyo. (Aug. 20) Video provided by AP
Powered by NewsLook.com
Do More Wedding Guests Make A Happier Marriage?

Do More Wedding Guests Make A Happier Marriage?

Newsy (Aug. 20, 2014) — A new study found couples who had at least 150 guests at their weddings were more likely to report being happy in their marriages. Video provided by Newsy
Powered by NewsLook.com
Ebola-Hit Sierra Leone's Freetown a City on Edge

Ebola-Hit Sierra Leone's Freetown a City on Edge

AFP (Aug. 19, 2014) — Residents of Sierra Leone's capital voice their fears as the Ebola virus sweeps through west Africa. Duration: 00:56 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins