Parkinson's Disease

Frequently Asked Questions

9. What genes are linked to Parkinson's disease?

Researchers have discovered several genes that are linked to Parkinson's disease. The first to be identified was alpha-synuclein or SNCA. Studies have found that Lewy bodies from people with the sporadic form of Parkinson's contain clumps of alpha-synuclein protein. This discovery revealed a possible link between hereditary and sporadic forms of the disease.

Other genes linked to Parkinson’s disease include parkin, DJ-1, PINK1, and LRRK2. DJ-1 and PINK1 cause rare, early-onset forms of Parkinson’s disease. The parkin gene is translated into a protein that normally helps cells break down and recycle proteins. DJ-1 normally helps regulate gene activity and protect cells from oxidative stress. PINK1 codes for a protein active in mitochondria. Mutations in this gene appear to increase susceptibility to cellular stress.

Mutations in LRRK2 were originally identified in several English and Basque families as a cause of a late-onset Parkinson’s disease. Subsequent studies have identified mutations of this gene in other families with Parkinson’s disease as well as in a small percentage of people with apparently sporadic Parkinson’s disease. LRRK2 mutations are a major cause of Parkinson’s disease in North Africa and the Middle East.