The picture that is emerging of Parkinsons disease is one in which genetic risk factors, passed down through the population for hundreds or thousands of years, add up to substantial susceptibility within a single individual, and, with some possible environmental influences, can result in disease, says Mayo Clinic neuroscientist Owen A. Ross, Ph.D., first author on the Annals of Neurology study.
These types of mutations are important because the goal of this research is to be able to screen people who are most at risk because of their genetic profiles, and design therapies that interfere with the disease process, Dr. Ross says.
The stronger R1441C mutation, also currently being reported, originated from several different founders and is now found in 20 families on three continents. It is relatively causative in nature, meaning the majority of people with the mutation are likely to develop the disease.
Parkinsons disease is fascinating to study because we can now roughly trace when and where mutations occur, and how they travel through offspring and in populations, says Kristoffer Haugarvoll, M.D., a visiting scientist at Mayo Clinic and lead author on the Neurology study. It also shows us that disease that appears to be the same in the majority of patients can originate from different genetic mutations either genes that increase risk substantially, or by several risk factors, genetic and environmental, that each have minor but additive effects.
Same mutations in familial and sporadic forms of the disease
Only about 10 percent of patients diagnosed with Parkinsons disease have a strong family history of the disease, and Mayo Clinic researchers in Florida have been part of a worldwide effort to discover whether common genes may explain the origin of the other 90 percent, the so-cal
|Contact: Cynthia Nelson|