Canadian researchers claim breakthrough ALS discovery
Researchers here have identified a genetic mutation that may open doors to better understand, and potentially treat, Lou Gehrig's disease.
Led by Dr. Michael Strong, the dean of Schulich Medicine and Dentistry at Western University, the researchers believe they've found a genetic culprit behind a disease called amyotrophic lateral sclerosis (ALS) that disrupts motor neurons that connect the brain to muscles and kills 90% of its victims within five years of diagnosis.
"I've been working in ALS research for 25 years. It's a tough disease . . . But this is a big opening. This is a London discovery," Strong said Tuesday,
Researchers found mutations in a gene that were present in nearly all ALS patients but not in healthy individuals, a gene called ARHGEF28.
The gene is linked to the production of proteins that help to stabilize and repair cells in health people --researchers suspect the repair function is compromised by the defects.
While there are other genetic defects linked to ALS, including one Strong pinpointed six years ago, he believes those in ARHGEF28 appear to be the common denominator.
His research has already sparked inquiries from labs in Germany, Israel and Italy.
"There will be a lot of interest worldwide," Strong said.
It's estimated that as many as 30,000 Americans and 2,000 Canadians are living with ALS.
Strong suspects there will need to be breakthroughs in a few areas to have a clinical impact on effectively treating patients with ALS.
He credits a colleague for helping to find the genetic mutation.
"Working with Dr. Rob Hegele at Robarts (Research Institute), we found there was a genetic mutation in the gene coding for this protein. So it's a huge discovery."