How mutations in a gene cause Parkinson`s disease

Last Updated: Mar 26, 2011, 00:00 AM IST

Washington: Scientists have found a way that mutations in a gene called LRRK2 may cause the most common inherited form of Parkinson`s disease.

The study, conducted by researchers at Mount Sinai School of Medicine, shows that upon specific modification called phosphorylation, LRRK2 protein binds to a family of proteins called 14-3-3, which has a regulatory function inside cells. When there is a mutation in LRRK2, 14-3-3 is impaired, leading to Parkinson`s.

This finding explains how mutations lead to the development of Parkinson`s, providing a new diagnostic and drug target for the disease.

"We knew that the LRRK2 mutation triggers a cellular response resulting in Parkinson`s disease, but we did not know what processes the mutation disrupted," said Zhenyu Yue, Associate Professor of Neurology and Neuroscience.

"Now that we know that phosphorylation is disturbed, causing 14-3-3 binding to be impaired, we have a new idea for diagnostic analysis and a new target for drug development."

The study has been published in the journal Public Library of Science.