Genetic Mutation Linked to Increased Parkinson’s Disease Risk

Researchers from Baylor College of Medicine have identified a rare genetic mutation in the ITSN1 gene that increases the risk of developing Parkinson’s disease by up to tenfold, SciTech Daily reported. This significant discovery, based on data from nearly 500,000 individuals, reveals that individuals with ITSN1 variants may also develop the disease at an earlier age.

Published in Cell Reports, the study involved validation across three independent groups, including over 8,000 Parkinson’s cases and 400,000 controls. The ITSN1 gene plays a crucial role in neural communication, and its impairment is linked to the progression of Parkinson’s symptoms, which affect nearly 2% of adults over 65.

Interestingly, similar mutations in ITSN1 have been associated with autism spectrum disorder (ASD), suggesting potential connections between the two conditions. This research opens new avenues for understanding Parkinson’s biology and developing targeted therapies to slow or prevent disease progression.