A large scale study involving 18,000 patients has identified a potential genetic model for Parkinson’s. Parkinson’s disease is defined as a degenerative neurological disorder causing movement problems, including trembling of the hands, arms, or legs, stiffness of limbs and trunk, slowed movements and problems with posture. Over time, patients may have difficulty walking, talking, or completing other simple tasks.
The research findings were published in the journal Nature Genetics. The scientists combined data from current genome analysis studies and found common variants implicating Parkinson’s disease. The data included approximately 13,708 Parkinson’s disease cases and 95,282 controls, all of European ancestry.
“Unraveling the genetic underpinnings of Parkinson’s is vital to understanding the multiple mechanisms involved in this complex disease, and hopefully, may one day lead to effective therapies,” said Andrew Singleton, Ph.D., a scientist at the NIH’s National Institute on Aging (NIA) and senior author of the study.
The researchers confirmed the results in another sample of subjects, including 5,353 patients and 5,551 controls. Twenty-four genetic variants represent a genetic predisposition towards developing Parkinson’s including six variants that have not been previously identified.
Some of the identified genetic risk factors are also involved with Gaucher’s disease, regulating inflammation and the nerve cell chemical messenger dopamine as well as alpha-synuclein, a protein that has been shown to accumulate in the brains of some cases of Parkinson’s disease.
Nalls et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nat. Genetics, July 2014 DOI: 10.1038/ng3043