In what is being hailed as leap forward in Lou Gehrig’s disease research, Canadian scientists are reporting they have identified a genetic defect involved in the condition’s development, pointing the way to new therapies.
Researchers from Western University in London, Canada, found that virtually all patients with amyotrophic lateral sclerosis (ALS) have abnormal proteins produced by the faulty gene.
Michael Strong, M.D., a scientist with Western's Robarts Research Institute, and colleagues found the defects — in a gene identified as ARHGEF28 — are present in both familial and sporadic forms of the disease.
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"Every time we look at a cell degenerating, this particular protein was deposited abnormally in the cell. It was a common denominator,” said Dr. Strong, whose findings were published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneratio, the official journal of the World Federation of Neurology Research Group on Motor Neuron Diseases. "We found there was a genetic mutation in the gene coding for this protein. So it's a huge discovery."
Lou Gehrig's disease, a progressive disease that affects the brain and muscles throughout the body, kills 90 percent of sufferers within five years of diagnosis. As many as 30,000 Americans are living with ALS.
Dr. Strong’s research was funded by the Canadian Institutes of Health Research and the ALS Society of Canada.
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