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Researchers identify a gene responsible for cases of Lou Gehrig's disease
Date:3/31/2008

This release is available in French.

Montreal, March 31, 2008 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 Gehrigs disease, an incurable neuromuscular disorder that affects motor neurons and leads to paralysis and death within one to five years.

Published in the current online edition of 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'Universit de Montral (CRCHUM). 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.

The breakthrough is the result of teamwork with peers from the Waterloo and Laval universities in Canada and the Fdration des maladies du systme nerveux and the Institute of Biology (Unit de Neurologie Comportementale et Dgnrative) 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-43s 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
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Contact: Nathalie Forgue
nathalie.forgue.chum@ssss.gouv.qc.ca
51-489-080-001-4342
University of Montreal
Source:Eurekalert

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