Researchers identify gene linked to Lou Gehrig's disease
Canwest News Service
Published: Monday, March 31, 2008


MONTREAL - Researchers from Canada and France say they have identified a gene that appears to be involved in the development of Lou Gehrig's disease in some people, according to a study published online for the journal Nature Genetics.

The study involved 200 residents of Quebec and France who suffer from symptoms of the disease, properly known as amyotrophic lateral sclerosis, or ALS.

Researchers, led by a team associated with the University of Montreal, identified several mutations in a gene called TDP-43, which is thought to be responsible for disease symptoms in up to five per cent of the ALS cases studied by the researchers.

They tied the mutated TDP-43 gene to abnormalities in the motor neurons of ALS patients. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body.

"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. Guy Rouleau, director of the Sainte-Justine Hospital Research Centre.

ALS is marked by the progressive degeneration of the nerve cells in the brain and spinal cord. It results in muscle weakness, atrophy and eventually total paralysis. Lou Gehrig, a star first baseman with the New York Yankees, suffered from the disease and died in 1941 at the age of 37.

"This discovery is a step towards the development of therapies for people suffering from this terrible disease and possibly other neurodegenerative diseases," said Dr. Edor Kabashi, also with the University of Montreal hospital research centre.

The research also involved scientists at the University of Waterloo in southern Ontario, Laval University in Quebec City and other researchers in France.


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