How mutations in a gene cause Parkinson’s disease

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.

ANI

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