Researchers identify a gene responsible for Lou Gehrig's disease

Mar 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 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.

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.

Source: University of Montreal

Explore further: Age of puberty in girls influenced by which parent their genes are inherited from

add to favorites email to friend print save as pdf

Related Stories

Researchers discover genetic link between both types of ALS

May 05, 2010

Researchers from Northwestern University Feinberg School of Medicine have discovered a link between sporadic and familial forms of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease also known as Lou Gehrig's ...

Recommended for you

Researchers find new mechanism for neurodegeneration

29 minutes ago

A research team led by Jackson Laboratory Professor and Howard Hughes Investigator Susan Ackerman, Ph.D., have pinpointed a surprising mechanism behind neurodegeneration in mice, one that involves a defect in a key component ...

Schizophrenia's genetic architecture revealed (w/ Video)

Jul 23, 2014

Queensland scientists are closer to effective treatments for schizophrenia after uncovering dozens of sites across the human genome that are strongly associated with a genetic predisposition to schizophrenia.

Mysterious esophagus disease is autoimmune after all

Jul 22, 2014

(Medical Xpress)—Achalasia is a rare disease – it affects 1 in 100,000 people – characterized by a loss of nerve cells in the esophageal wall. While its cause remains unknown, a new study by a team of researchers at ...

User comments : 0