Featured Research

from universities, journals, and other organizations

New Gene Responsible For Lou Gehrig's Disease Identified

Date:
March 31, 2008
Source:
University of Montreal
Summary:
Scientists have identified a novel gene responsible for a significant fraction of ALS (sporadic amyotrophic lateral sclerosis) cases. ALS is commonly referred to as Lou Gehrig's disease, an incurable neuromuscular disorder that affects motor neurons and leads to paralysis and death within one to five years.

A team of Canadian and French researchers has identified a novel gene responsible for a significant fraction of ALS (sporadic amyotrophic lateral sclerosis) cases. ALS is commonly referred to as Lou Gehrig's disease, an incurable neuromuscular disorder that affects motor neurons and leads to paralysis and death within one to five years.

Related Articles


The team identified several genetic mutations in the TDP-43 gene by studying ALS patients from France and Quebec. They established TDP-43 as the gene responsible for up to five percent of the ALS patients.

Published in Nature Genetics, the study on 200 human subjects with ALS was led by Doctors Guy Rouleau, Edor Kabashi, Paul Valdmanis of the Research Centre of the Centre hospitalier de l'Université de Montréal (CRCHUM).

The breakthrough is the result of teamwork with peers from the Waterloo and Laval universities in Canada and the Fédération des maladies du système nerveux and the Institute of Biology (Unité de Neurologie Comportementale et Dégénérative) in France.

Building on past studies

In 1993, Dr. Rouleau and his team also helped identify "superoxide dismutase" as the gene that causes the disease in 10 to 20 percent of all familial cases of ALS. This cornerstone study led to development of several mouse and rat models of ALS that closely resemble the motor neuron disorder observed in ALS patients. These models have been very useful to study molecular and cellular mechanisms of disease and to test treatments for ALS.

TDP-43's normal function is to bind and splice RNA. Two years ago, a team from the University of Pennsylvania discovered TDP-43 in abnormal protein clumps, referred to as aggregates, in motor neurons of ALS patients. However, it was not certain whether TDP-43 causes motor neuron disease or is just a pathological marker.

"The identification of additional mutations in TDP-43 in other ALS patients will confirm that this gene is a prominent cause of this type of disorder," said Dr. Rouleau, director of the Sainte-Justine Hospital Research Centre. "Animal models over-expressing the mutations identified in this study will provide crucial insight into how TDP-43 aggregate and ultimately kill motor neurons."

"This discovery is a step towards the development of therapies for people suffering from this terrible disease and possibly other neurodegenerative diseases," said Dr. Kabashi.

Drs. Rouleau and Kabashi are financially supported by the Canadian Institutes of Health Research (CIHR) and ALS Canada. Their research was also funded by the Muscular Dystrophy Association and the ALS Association.


Story Source:

The above story is based on materials provided by University of Montreal. Note: Materials may be edited for content and length.


Cite This Page:

University of Montreal. "New Gene Responsible For Lou Gehrig's Disease Identified." ScienceDaily. ScienceDaily, 31 March 2008. <www.sciencedaily.com/releases/2008/03/080331122528.htm>.
University of Montreal. (2008, March 31). New Gene Responsible For Lou Gehrig's Disease Identified. ScienceDaily. Retrieved April 1, 2015 from www.sciencedaily.com/releases/2008/03/080331122528.htm
University of Montreal. "New Gene Responsible For Lou Gehrig's Disease Identified." ScienceDaily. www.sciencedaily.com/releases/2008/03/080331122528.htm (accessed April 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, April 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

7-Year-Old Girl Gets 3-D Printed 'robohand'

7-Year-Old Girl Gets 3-D Printed 'robohand'

AP (Mar. 31, 2015) — Although she never had much interest in prosthetic limbs before, Faith Lennox couldn&apos;t wait to slip on her new robohand. The 7-year-old, who lost part of her left arm when she was a baby, grabbed it as soon as it came off a 3-D printer. (March 31) Video provided by AP
Powered by NewsLook.com
Solitair Device Aims to Takes Guesswork out of Sun Safety

Solitair Device Aims to Takes Guesswork out of Sun Safety

Reuters - Innovations Video Online (Mar. 31, 2015) — The Solitair device aims to take the confusion out of how much sunlight we should expose our skin to. Small enough to be worn as a tie or hair clip, it monitors the user&apos;s sun exposure by taking into account their skin pigment, location and schedule. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Soda, Salt and Sugar: The Next Generation of Taxes

Soda, Salt and Sugar: The Next Generation of Taxes

Washington Post (Mar. 30, 2015) — Denisa Livingston, a health advocate for the Diné Community Advocacy Alliance, and the Post&apos;s Abby Phillip discuss efforts around the country to make unhealthy food choices hurt your wallet as much as your waistline. Video provided by Washington Post
Powered by NewsLook.com
UnitedHealth Buys Catamaran

UnitedHealth Buys Catamaran

Reuters - Business Video Online (Mar. 30, 2015) — The $12.8 billion merger will combine the U.S.&apos; third and fourth largest pharmacy benefit managers. Analysts say smaller PBMs could also merge. Fred Katayama reports. Video provided by Reuters
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:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

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