Gene Mutation is Linked to Parkinson’s Disease

A single mutation in a recently discovered Parkinson’s disease gene accounts for at least 5 percent of inherited cases, according to a new study that included research done at Children’s Hospital Medical Center in Cincinnati.

The genetic flaw may also account for up to 2 percent of Parkinson’s cases in people who do not have a family history of the disease, according to the research presented in the British medical journal The Lancet.

“Knowing that this mutation is not only important in familial forms of the disease, but in typical sporadic disease, where there is no strong family history, could lead to earlier detection of Parkinson’s disease. Further study of how this gene works also might help scientists identify new treatments,” said Andrew Singleton, chief of molecular genetics at the National Institute on Aging’s Laboratory of Neurogenetics, and senior author of one of the three papers.

Parkinson’s affects about 1 million Americans, with 50,000 new cases diagnosed each year. The disease occurs when brain cells die or become impaired and no longer produce dopamine, a brain- signaling chemical.

Without the chemical, patients develop tremors or trembling in their limbs, jaw and face, stiffness and slowness of movement and impaired balance and coordination. They find it difficult to move, and they become more susceptible to falls. It ultimately immobilizes and kills patients.

Singleton and colleagues recently discovered a gene called LRRK2 by studying families in Spain and England with a history of Parkinson’s.

The researchers found that of the 767 Parkinson’s patients with a family history of the disease, 34 carried the mutation. Among the 482 patients with no known family history of the disease, eight were found to have the mutation.