PARK gene family

Genes in this family are associated with Parkinson disease, a disorder of the nervous system that causes progressive problems with movement and coordination. Most cases of Parkinson disease result from a combination of genetic and environmental factors, many of which are unknown. However, more than a dozen genes have been identified that, when altered, either cause or influence the risk of developing the disease.

Genes in the Parkinson disease gene family have a variety of functions in the brain, and some are also active in other organs and tissues. Mutations in these genes affect the function and survival of particular nerve cells (neurons) in parts of the brain critical for normal movement, balance, and coordination. Normally, these neurons produce a chemical messenger called dopamine, which transmits signals within the brain to produce smooth physical movements. When dopamine-producing neurons become damaged and die, the brain becomes unable to control muscle movement. The progressive loss of these neurons underlies the movement abnormalities associated with Parkinson disease.

Some of the genes in the Parkinson disease family are also associated with other neurological conditions. For example, mutations in the PLA2G6 gene can cause infantile neuroaxonal dystrophy, and SNCA gene mutations can cause multiple system atrophy and dementia with Lewy bodies.