NEW RESEARCH SHOWS HOPE OF CURE FOR MUSCULAR DYSTROPHY

TOSHIFUMI YOKOTA A RESEARCHER IN   THE DEPARTMENT OF MEDICAL GENTICS AT THE UNIVERSITY OF ALBERTA, POSES FOR A PHOTO IN HIS LAB, THURSDAY AUG. 9, 2012.

           There is hope in sight for those suffering from muscular dystrophy after a breakthrough discovery at the University of Alberta that could someday cure the disease.

Dr. Toshifumi Yokota, a researcher at the university's faculty of medicine and dentistry, has been working on a gene treatment therapy for over five years that targets the gene responsible for causing Duchenne muscular dystrophy.

"This is one of the most common and devastating disorders worldwide," Yokota said.

"We still have a long way to go, but our research has worked quite well, and now we are working on human cells."
This form of muscular dystrophy affects one in every 3,500 live male births, and works by mutating the gene responsible for muscle membrane support, causing the muscle to break down.

The effect that this has on those with the disease is crippling.

"It's quite a devastating disorder, the average life expectancy is 25 years," Yokota said.

But there is light on the horizon.

By creating DNA molecules that can remove the mutated part of genes, U of A researchers have seen positive results.

After testing on mouse cells and live mice, researchers found a 10 to 15% rise in protein levels in the mice that have been treated.

And while a 15% rise may not sound like a lot, the effect it will have will be monumental, Yokota said.

"A 10 to 15% leads to strong effects," he said.

"Patients have zero proteins so if you can rescue 15% there is a great scientific effect."

Quite simply, 15% is the difference between a wheelchair and walking. It also raises life expectancy from 25 years to up to 70 years.

Yokota's findings have made a splash in the muscular dystrophy community, and while his research solely targets Duchenne muscular dystrophy, it has given hope to all who suffer from the disease.

"His findings are very important because they continue to give hope for other treatments," said Marla Spiegel, the national director of research for Muscular Dystrophy Canada.

"It will allow patients with muscular dystrophy to lead healthier, better lives."

Yokota said human trials are still five to 10 years away but trials on human cells have begun.

Yokota left the Children's National Medical Center in Washington, DC, in October 2011 to become the lead researcher on this subject at the U of A.