Scientists appear to have discovered a gene mutation that is connected to the development of Parkinson's Disease in people with a family history of the illness.
The gene, known as GIGYF2, is located in the centre of Park 11, a chromosomal region linked to Parkinson's.
The study identified seven different types of mutations of the gene in 12 different people. About 250 people with Parkinson's who had at least one first-degree relative (parent, child or sibling) with the disease provided DNA samples for the study.
Family members with Parkinson's who were able to give DNA samples were also found to carry the same mutation.
None of the mutations were found in the study's 200 healthy subjects.
Less than 25 per cent of Parkinson's cases are genetic and there have been only a few genes identified that are linked to the disease. But because there is no known treatment or cure, researchers hope that studying genetic codes and mutations could lead to new treatments.
"These findings may ultimately help open the door to the development of new therapeutic - and possibly even preventive - strategies that target the underlying cause of Parkinson's disease," said senior study author Robert J. Smith, director of the division of endocrinology and the Hallett Center for Diabetes and Endocrinology at Rhode Island Hospital.
Smith, also a professor at Alpert Medical School, said that the next step is to focus future studies on the specific mutations to determine exactly what role they play in the development of Parkinson's.
Parkinson's is the second-most common type of neurodegenerative disease, behind Alzheimer's, that affects the body's movement. Nerve cells in the part of the brain that controls muscle movement produce dopamine, a chemical that lets the body move in a coordinated, smooth way.
Symptoms of Parkinson's occur when these cells are damaged or die off. Symptoms include tremors, slow movement, stiffness or problems with balance or coordination start to appear.
The study's secondary finding was that insulin and a related hormone called insulin-like growth factor (IGF) may play a role in the development of Parkinson's and other neurodegenerative disorders. This supports similar findings in other studies, and could suggest a link between Parkinson's and diabetes.
The joint study between the Rhode Island Hospital and The Warren Alpert Medical School of Brown University will be published online in the American Journal of Human Genetics.
