July 15th 2011

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Parkinson’s-causing gene discovered at UBC

 

Scientists at the University of British Columbia have identified a genetic mutation that causes late-onset Parkinson’s disease.

The mutation — dubbed VPS35 — was isolated through sophisticated genetic research, using DNA taken from a Swiss family in which 11 people have developed the disease.

Carles Vilarino-Guell, a researcher with the Centre for Molecular Medicine & Therapeutics, said DNA samples were taken from two cousins. Using genetic analysis to compare the variations between the cousins, they succeeded in identifying the mutated gene.

“This conclusively proves that this mutation is the cause of disease in these patients,” Vilarino-Guell said.

The UBC study was published in Thursday’s edition of the American Journal of Human Genetics.

Five other genes that cause Parkinson’s have already been identified, but this is the first breakthrough since 2004.

Vilarino-Guell said most people possessing the VPS35 gene mutation developed Parkinson’s at age 50, plus or minus 10 years.

He said people are born with this genetic mutation, and that it virtually guarantees an individual will develop Parkinson’s during old age.

Parkinson’s is a degenerative disorder affects more than 100,000 Canadians and more than 10 million people worldwide. Symptoms include shaking, trouble walking and a general decline motor control.

Vilarino-Guell said the genetic mutation is linked to other neurodegenerative disorders like Alzheimer’s, but that the discovery will not be used for treatment for some time.

“The genetic discovery is always the beginning of the road,” he said.

“There’s a long way from here to a therapy.”

Vilarino-Guell, a 33-year-old Spaniard, said the discovery is attracting great interest among fellow researchers. He said it also gives him deep personal satisfaction.

“I’m a geneticist,” he said. “I breathe to find a gene.”

The research was supported by the Michael J. Fox Foundation, the Parkinson’s Disease Foundation and the Canada Excellence Research Chairs program.


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