Western University researchers discover genetic mutation linked to Lou Gehrig's disease

Posted: January 16, 2013 at 8:44 pm

London researchers have identified a genetic mutation that may open doors to better understand, and potentially treat, Lou Gehrigs disease.

Led by Michael Strong, the dean of Schulich Medicine and Dentistry at Western University, the researchers believe theyve fingered a genetic culprit behind a disease called amyotrophic lateral sclerosis (ALS) that disrupts motor neurons that connect the brain to muscles and kills its victims, 90% of them within five years of diagnosis.

Ive been working in ALS research for 25 years. Its 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.

Strongs work is published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, the official journal of The World Federation of Neurology Research Group on Motor Neuron Diseases.

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.

No wonder as many as 30,000 Americans and 2,000 Canadians are living with ALS.

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Western University researchers discover genetic mutation linked to Lou Gehrig's disease

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