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Bioscreening News UBC makes another Parkinson's gene discovery
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Research at the University of British Columbia is paving the way for the development of Parkinson's drugs that target the root causes of the disease instead of just treating the symptoms.

A team of researchers at UBC and the Vancouver Coastal Health Research Institute has discovered two genes responsible for the disease in as many months.

Parkinson's is a neurodegenerative disease that causes trembling, stiffness, slow movement and poor balance and co-ordination. It affects some 10,000 Canadians, one million Americans and 10 million people worldwide.

There is no cure for it and even the best treatments available only help to subdue the symptoms.

The latest discovery out of B.C. offers a target for potential treatment.

Published Friday in The American Journal of Human Genetics, the study points to a mutation called EIF4G1 found in more than half the members of each generation of a family in France with high rates of Parkinson's.

The mutated gene is responsible for converting a cell's genetic code into proteins, a fact that confounded the researchers at first, because this conversion process was seemingly unrelated to Parkinson's disease.

"Translating a gene into a protein is such a fundamental process to the life of a cell. ...I thought it would be unlikely to lead to this form of Parkinson's, which appears later in an individual's life, and affects only a small subset of brain cells," said Matthew Farrer, UBC professor and Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience.

But as it turns out, the protein in question regulates the cell's ability to recycle its components. Parkinson's, meanwhile, is marked by collections of discarded proteins trapped in specific brain cells.

"This discovery provides direct evidence that Parkinson's may result from gene-environmental interactions," Farrer said. "The resulting impairment highlights neuronal recycling systems as a focal point in the effort to develop more effective drugs."

In July, the research team isolated a mutation on a gene called VPS35, found in a Swiss family with 11 Parkinson's sufferers. That same mutation could not be found in healthy subjects, but was present in other Parkinson's sufferers from other families.

"This conclusively proves that this mutation is the cause of disease in these patients," lead author Carles Vilarino-Guell said at the time.

That study was also published in The American Journal of Human Genetics.

 

Source: http://www.torontosun.com/2011/09/09/ubc-makes-another-parkinsons-gene-discovery

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