"Researchers Find Unique Genetic Mutation In 74 Year Old Man With Parkinson’s Disease"
Mutations in the human genome may be responsible for many diseases. In the case of Parkinson's disease (PD), five locations have been the subject of recent attention. In a study in the Journal of Parkinson's Disease, researchers found a unique mutation in a 74-year-old man with PD. This mutation is not found in the neurologically normal population, and may be the first indication that rare variants in ACMSD alone might increase the risk of PD. "Our findings suggest that a new mutation in the ACMSD gene could be a risk factor for PD. It could lead to the identification of more cases with genetic PD, both sporadic and familial, and consequently to better management of the patient. The ACMSD gene was previously associated with the risk for PD by various genome-wide association studies," explained lead investigator Coro Paisán-Ruiz, PhD, assistant professor of neurology, genetics and genomic sciences, and psychiatry at the Icahn School of Medicine at Mount Sinai. “The results of the current study are of great interest because the identification of a new mutation linked to the disease could lead us to a better understanding of the disease and, eventually, to the development of new therapeutic strategies," explained Dr. Paisán-Ruiz.
- Coro Paisan-Ruiz, PhD, Assistant Professor, Neurology, Genetics and Genomic Sciences, Psychiatry, Icahn School of Medicine at Mount Sinai