Researchers at Rhode Island Hospital and The Warren Alpert Medical School of Brown University have discovered a gene that could hold the key to developing new treatments for Parkinson's disease - a progressive and often debilitating movement disorder that affects as many as one million Americans.
According to the findings of the study, published online in the American Journal of Human Genetics, mutations in the gene, known as GIGYF2, appear to be directly linked to the development of Parkinson's in people with a family history of the disease. The gene is one of only a handful linked to Parkinson's and one of just two genes known to be a common contributor to this degenerative disease, which has no known cause or cure.
Although less than a quarter of all cases of Parkinson's are familial, researchers believe genes like GIGYF2 can provide clues to the mechanisms behind Parkinson's and could point to new treatments for the more common and sporadic forms of the disease.
“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, improving the quality of life of the many people worldwide who are affected by this devastating disorder,” said senior author Robert J. Smith, M.D., director of the division of endocrinology and the Hallett Center for Diabetes and Endocrinology at Rhode Island Hospital and professor of medicine at Alpert Medical School.
Their research also revealed an intriguing secondary finding –– the possible association between Parkinson's and insulin and the related hormone known as insulin-like growth factor (IGF). This joins a small but growing body of research linking insulin and IGF to Parkinson's disease and other neurodegenerative disorders, such as Alzheimer's.
“A better understanding of the link between insulin or IGF and Parkinson's may lead us to new treatment strategies for Parkinson's and also new insights into the connection between diabetes and nervous system disorders,” Smith said.
Parkinson's is one of the most common neurodegenerative disorders, second only to Alzheimer's, affecting between one and two percent of the population above age 60. The disease occurs when certain nerve cells in the part of the brain that controls muscle movement either die or become impaired. Normally, these cells produce a vital chemical known as dopamine, which allows smooth, coordinated function of the body's muscles and movement. When the dopamine-producing cells are damaged, the symptoms of Parkinson's appear – including tremors, slow movements, stiffness, and difficulty with balance or coordination.
Smith, an endocrinologist, and his team at Rhode Island Hospital and Brown typically focus on proteins important to the function of insulin and IGF. They initially identified GIGYF2 nearly five years ago because of its potential involvement in IGF and insulin signaling systems, but did not explore an association with Parkinson's at that time.