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Jan 15, 2013  |  Vote 0    0

Western makes ‘huge discovery’ on ALS gene mutation

London Community News

New targeted therapies for Lou Gehrig’s disease may be possible thanks to a “huge discovery” at Western University.

Researchers at Western have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig’s Disease according to a release from the Schulich School of Medicine & Dentistry.

Dr. Michael Strong is a scientist with Western’s Robarts Research Institute and a Distinguished University Professor in Clinical Neurological Sciences at Schulich. He and his colleagues found that mutations within the ARHGEF28 gene are present in ALS. They found a protein “abnormally” included in the gene across both familial and sporadic forms of the disease.

“Every time we look at a cell degenerating, this particular protein was deposited abnormally in the cell,” explained Strong in a news release, who is also the Dean of Schulich Medicine & Dentistry.  “It was a common denominator. Working with Dr. Rob Hegele at Robarts, we found there was a genetic mutation in the gene coding for this protein.  So it’s a huge discovery."

ALS is a progressive disease that affects the motor neurons that connect the brain to muscles throughout the body. About 90 percent of patients die within five years of diagnosis. About 2,000 Canadians are living with the disease. The research "opens the door to future targeted therapies."

Strong’s team is convinced ALS is a disorder of RNA metabolism. RNA is the intermediary or messenger between genes and the protein being made. This new protein appears to play a critical role. In the case of ALS, Strong believes the protein is disturbed on the RNA side so it’s no longer able to respond to cell injury.

“We need to understand what causes the switch between the two functions, and then can we modulate it.”

The Canadian Institutes of Health Research and the ALS Society of Canada funded the research. A video of Strong explaining this research can be found at http://www.youtube.com/watch?v=z3MXX_F1Urs

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