2/27/2014 – A study led by Demetrius Maraganore, MD, Chairman of the Department of Neurology, NorthShore University HealthSystem was recently published in the journal Movement Disorders.

This large, longitudinal study involving more than 21 centers and 6,000 patients from all over the world is the first ever to examine the association of genetic variations with survival in Parkinson’s disease.

An estimated 1 million people in the United States and more than 5 million worldwide are living with Parkinson’s disease. Variations in the alpha-synuclein gene, which encodes a protein important to brain development and maintenance, have been demonstrated to be the most important and common genetic risk factor for Parkinson’s disease worldwide. The gene-encoded protein is of great importance to Parkinson’s researchers because it is a major constituent of Lewy bodies – clumps of protein that are the pathological hallmark of Parkinson’s.

“The purpose of the study was to determine if the genetic variations that increase Parkinson’s risk, by causing too much alpha-synuclein protein production, are also associated with reduced survival (or a greater risk for death) and whether genetic variations that reduced Parkinson’s risk by reducing alpha-synuclein protein production are associated with increased survival or a lower risk for death,” said Dr. Maraganore.

The findings of the study were consistent with other studies that found that the alpha-synuclein gene risk variant -- or too much protein -- was associated with a younger age of onset of Parkinson’s disease.

“To our surprise, there was no association found between alpha-synuclein gene variations and survival in Parkinson’s,” Dr. Maraganore concluded. “While our findings neither support nor refute treatments targeting alpha-synuclein in Parkinson’s disease, they do indicate that the association between alpha-synuclein gene variations and Parkinson’s disease is more complex than originally appreciated. More studies are needed to understand whether and how alpha-synuclein gene variations contribute to progression and outcomes in Parkinson’s disease.”

This study is just one of Dr. Maraganore’s ongoing contributions to the study of Parkinson’s as he leads the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium into its eighth year. With 60 member sites from 30 countries and six continents, this consortium shares data and DNA from more than 40,000 Parkinson cases and more than 40,000 control subjects. The GEO-PD has published more than 20 peer-reviewed papers since its founding.

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