Studies Focus on two mutations for Parkinson cure

Thursday, May 29th, 2014 3:22:50 by
Parkinsons disease

Genetic studies in Parkinson’s disease performed in Basque and Catalan hospitals are key to the development of neuroprotective or curative therapies for patients worldwide. The foundation is named after the Hollywood actor Michael J. Fox, who collaborates with fellow billionaire Sergey Brin has redoubled its commitment to open investigations in parallel with the Donostia University Hospital and hospital Clinic of Barcelona because he trusts their labs can give to the target of an effective drug against the disease. The work focuses mainly on two mutations. But these centers need volunteers with this disease and their families to conduct further search for biomarkers to design future treatments.

“The goal is very ambitious,” neurologists¬† Javier Ruiz- Martinez and Dolores Vilas, project researchers in San Sebastian and Barcelona, respectively agree. The scientific adventure begins with the discovery in 2004 of a mutation of the LRRK2 gene mutation known as the Basque and christened dardarin. This mutation (R1441G), detected after a study of several families of Gipuzkoa, “shows that classic Parkinson’s disease might have a genetic origin,” says Ruiz. Their study help explain the disease, adds the Basque neurologist, along with the G2019S mutation of the same gene, the most widespread in the world, especially among the Ashkenazi and Berber population. This same alteration suffers, for example, Brin, who has already contributed $ 132 million to the project. The Michael J. Fox Foundation has committed far more than threefold.

“We do not know the ultimate cause that cause Parkinson’s disease,” says Ruiz, ” but it is shown that certain genetic alterations might produce. Here is a model of research whose results could be applied to patients around the world, and hence the Michael J. Fox Foundation previously included in an international project. ” The Donostia University Hospital and the Hospital Clinic of Barcelona involved in the project along with 32 centers in 13 countries.

In Spain, Parkinson’s disease affects 1% or 2% over 65 years. It is the second neurodegenerative disease after Alzheimer’s. About 5 % or 10 % of cases are genetic. “Although the genetic cause only justify a limited number of cases, it is qualitatively very important. Investigate this causal factor is crucial to find specific treatments for both these genetic forms to all forms of the disease,”says Vilas.

The two Spanish hospitals want to attract new patients to get to that point. Need especially patients with a family history or who started with the disease at an early age (30 to 40 years) says Vilas. San Sebastian, with a portfolio of more than 30 families with several “very loyal” patients, deepen Parkinson ‘s disease genetic. Barcelona, with a hundred, will investigate further in the prodromal Parkinson (study of early symptoms) in patients with abnormal smell and a type of sleep disorder called sleep behavior disorder REM. Participants will be tracked for five years.

Vilas and Ruiz remark that at a time that the investigation ” is under minimal,” the scarcity of funding sources “official “, ” momentum are giving Michael J. Fox and Brin to this cause is very important in the search a remedy to the disease. ” The first has the disease from 32 years and the second has turned to this endeavor since learned that carries the G2019S mutation in this gene associated with Parkinson’s.

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