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.
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'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