Mutant genes linked to Parkinson’s disease in some patients of Japanese or European descent

Last Updated on November 20, 2009 by Joseph Gut – thasso

November 20, 2009 – Two independent studies which tried to uncover genetic associations behind Parkinson’s disease have been published in the latest issue of Nature Genetics. They are the largest studies of this type to date and involved more than 25’000 participants.

The two research teams have found that people of Japanese and European descent who have mutant versions of five genes may be at higher risk of developing Parkinson’s disease.

The first study in Japan looked at ethnic Japanese  only while the second study, performed in the United States, focused on people of European heritage only.

Thus, in the first study, researchers at the Kobe University in Japan and sequenced the genes of 2’011 participating patients with Parkinson’s disease and 18’381 other study participants without the disease. They found that those with the disease were carriers of genetic variants of the PARK16, BST1, SNCA and LRRK2 genes. In the second study, researchers at the National Institutes of Health’s (NIH) Laboratory of Neurogenetics in the US analyzed the genes of more than 5’000 patients of European ancestry who suffer from the disease and detected strong links between Parkinson’s and genetic variants of the genes SNCA and MAPT. The two teams later compared their data and found that variants of PARK16, SNCA and LRRK2 carry risk of Parkinson’s disease in both Japanese and European populations, while genetic variants of BST1 and MAPT, repectively, seemed to specific for patients of Japanese or European descent.

The researchers hope that the better understanding of the underlying genetic variants involved in the progress of Parkinson’s disease will lead to better insights into the causes and underlying biology of this disease. Eventually, this knowledge will one day provide physicians with strategies to delay, or even prevent, the development of Parkinson’s disease.

Parkinson’s disease is a neurodegenerative disease that affects one to two percent of people over the age of 65. It is characterized by tremors, sluggish movement, muscle stiffness, and difficulty with balance. Although medical treatments today may improve symptoms, there are none that can slow down or halt the progression of the disease.

Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

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