Researchers at Western University have identified a new genetic mutation that may open doors to better understand, and potentially treat, Lou Gehrigs disease.
Dr. Michael Strong, a scientist with Westerns Robarts Research Institute and professor at the Schulich School of Medicine and Dentistry, found that mutations within the ARHGEF28 gene are present in amyotrophic lateral sclerosis (ALS). His work is published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneratio, the official journal of The World Federation of Neurology Research Group on Motor Neuron Diseases.
Lou Gehrigs disease affects the motor neurons that connect the brain to muscles throughout the body and 90% of its victims die swithin 5 years of diagnosis. As many as 30,000 Americans and 2,000 Canadians are living with ALS.
Every time we look at a cell degenerating, this particular protein was deposited abnormally in the cell. It was a common denominator, explains Strong, who is also the dean of Schulich Medicine and Dentistry.
Working with Dr. Rob Hegele at Robarts, we found there was a genetic mutation in the gene coding for this protein. So its a huge discovery.
More than a dozen genes have been linked in other research to ALS.
The research was funded by the Canadian Institutes of Health Research and the ALS Society of Canada.
Video of Strong explaining this research can be found at: http://www.youtube.com/watch?v=z3MXX_F1Urs
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Western University researchers discover genetic mutation linked to Lou Gehrig's disease