Protein Mutations Cause Parkinson's Disease

A gene and six mutations that cause symptoms associated with Parkinson's disease and other neurodegenerative disorders have been discovered by researchers. Their findings were reported in the November 18, 2004, issue of Neuron.

The team of researchers found a mutation of the LRRK2 gene in members of six families with many individuals affected by Parkinson's disease. A brain autopsy on deceased members indicated that mutations in the LRRK2 gene play a central role in developing pathology characteristic of Parkinson's disease and similar disorders, such as Alzheimer's disease and amyotrophic lateral sclerosis, known as Lou Gehrig's disease.

Dr. ZbigniewWszolek, a neurologist at the Mayo Clinic Jacksonville (FL, USA), has studied the two largest families in which a LRRK2 mutation was found for the past 14 years. "The discovery of this gene will have major implications for the understanding of mechanisms leading to the development of these neurodegenerative diseases,” he remarked.

The discovery is the result of research into the cause of autosomal dominant, late-onset Parkinson's disease in the studied families. The Mayo team and other researchers have previously narrowed the genetic cause of this form of inherited parkinsonism to a region of chromosome 12 called PARK8.



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