- As is the case for mutations in LRRK2, a person need only inherit a mutation in the alpha-synuclein gene (SNCA, also known as PARK1 or PARK4) from one parent to be at substantial risk for Parkinson’s disease. The average age for disease onset in people with a disease-causing mutation in this gene is 46. The protein encoded by the alpha-synuclein gene is one of the main components of the protein aggregates found in brain cells of people with Parkinson’s disease.
- Mutations in parkin (PARK2), PINK1 (PARK6) and DJ1 (PARK7) are recessive, which means a person must inherit mutated copies of these genes from both parents in order to develop Parkinson’s (there are rare exceptions). Multiple mutations in each of these genes have been identified; some are extremely rare.
- Parkinson’s disease caused by mutations in parkin, PINK1 or DJ1 usually strikes at a young age. Parkin mutations most often lead to disease onset between the ages of 20 and 40, although some people are younger than 10 or older than 60 when they develop symptoms. PINK1 mutations usually cause Parkinson’s between the ages of 32 and 48. DJ1 mutations are associated with an age of onset between 20 and 40 years of age.
This is an exciting time in the history of Parkinson’s research. The genetic aspects of the disease could reveal information that is invaluable in the ongoing search for new treatments, or even a cure. We invite Parkinson’s patients, their families and friends, and anyone who believes in the power of scientific research to change lives to participate in the 23andMe Parkinson’s disease community. Visit the 23andMe Parkinson’s community page to learn more.