Neuroscientists at Mayo Clinic in Jacksonville, Fla., leading a team of researchers in the United States and Europe, have discovered that a novel mutation in the recently identified LRRK2 gene causes parkinsonism in several North American and European families. Their findings will be reported in the April edition of the American Journal of Human Genetics. The disease-causing G2019S mutation in the LRRK2 gene is the first time a genetic cause has been associated with typical, late-onset Parkinson’s disease.
The researchers found the mutation by DNA sequencing of the LRRK2 gene in families with parkinsonism. These families came from the United States, Norway, Ireland and Poland. Family members of the patients with the G2019S mutation were subsequently screened, and 22 of 42 were found to carry the same mutation. Seven of them were already diagnosed with Parkinson’s disease. The mutation was absent in more than 2,000 healthy control individuals. Subsequent screening identified several patients with sporadic Parkinson’s disease (i.e., no family history) who were positive for this mutation. Interestingly, all G2019S patients shared a genetic pattern indicating a common, although ancient, ancestor.
Parkinsonism is a syndrome characterized by resting tremor, rigidity, slow movement and postural instability. The most common form of Parkinson’s disease, which manifests late in life, was thought to be sporadic. However, these findings indicate a genetic component of the disease. "It’s a small number of cases," says Mayo Clinic neuroscientist Matthew Farrer (new window), Ph.D., whose lab sequenced the gene, "but it will be insightful for creating models of Parkinson’s and extrapolating from that to the disease in general."
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