Researchers identify a gene responsible for cases of Lou Gehrig's disease - Canadian-French discovery, published Nature Genetics, result of human testing

    MONTREAL, March 31 /CNW Telbec/ - 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
    Published on line March 30th in Nature Genetics, the study on 200 human
subjects with ALS was led by Guy Rouleau, Edor Kabashi, Paul Valdmanis of the
Research Centre of the Centre hospitalier de l'Université de Montréal
(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 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), ALS Canada and Fonds de la recherche en
santé du Québec. Their research was also funded by the Muscular Dystrophy
Association and the ALS Association. For more information about ALS, please

    On the web: About the CHUM ( and the CRCHUM

    About the Université de Montréal

For further information:

For further information: Nathalie Forgue, Communications Advisor, Centre
Hospitalier de l'Université de Montréal, (514) 890-8000, ext. 14342;
Sylvain-Jacques Desjardins, International press attaché, Université de
Montréal, (514) 343-7593,

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