Scientists ID Lou Gehrig's Disease Gene
Posted on: Wednesday, 2 April 2008, 12:01 CDT
A team of Canadian and French researchers said it has identified a gene responsible for a significant fraction of amyotrophic lateral sclerosis cases.
ALS -- commonly referred to as Lou Gehrig's disease -- is an incurable neuromuscular disorder.
Researchers at the University of Montreal and Waterloo and Laval Universities in Canada, along with the Institute of Biology and the Federation of Nervous System Diseases in France identified several genetic mutations in the TDP-43 gene. They established TDP-43 as the gene responsible for up to 5 percent of the 200 ALS patients in the study.
Two years ago, a team from the University of Pennsylvania discovered TDP-43 in abnormal protein clumps in ALS patients. However, it wasn't certain whether TDP-43 caused motor neuron disease or was 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. Guy Rouleau of the University of Montreal, who said the findings will provide crucial insight into how TDP-43 aggregate and ultimately kill motor neurons.
The research appears in the online edition of the journal Nature Genetics.
Source: United Press International
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