Scientists Identify New Gene Associated with Increased Parkinson’s Disease Risk

New York: An international team of researchers has identified a significant genetic link to Parkinson’s disease, uncovering rare variants in the ITSN1 gene that dramatically increase the risk of developing the neurodegenerative disorder. The study, conducted by scientists from Baylor College of Medicine, AstraZeneca, and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, could open new avenues for treatment aimed at slowing or preventing disease progression.

Parkinson’s disease, the second most common neurodegenerative disorder, currently has no cure and affects nearly 2% of individuals over 65. To better understand genetic contributions to the disease, researchers analyzed genetic data from nearly 500,000 participants in the UK Biobank. They found that individuals carrying rare ITSN1 variants that disrupt normal gene function face up to a tenfold higher risk of developing Parkinson’s disease.

“These rare mutations have an exceptionally strong impact on disease risk, surpassing other well-established genes like LRRK2 and GBA1,” explained Dr. Ryan S. Dhindsa, assistant professor of pathology and immunology at Baylor College of Medicine. The findings, published in Cell Reports, were further validated across three independent cohorts involving over 8,000 Parkinson’s patients and 400,000 controls.

Beyond the heightened risk, ITSN1 carriers also tended to experience earlier disease onset. The gene plays a crucial role in synaptic transmission—the process by which neurons communicate—making it highly relevant to Parkinson’s disease, where nerve signal disruptions lead to movement impairments such as tremors, rigidity, and balance difficulties.

To further explore ITSN1’s role, the researchers studied fruit fly models, demonstrating that reduced ITSN1 levels worsened Parkinson’s-like symptoms, including impaired climbing ability. Future research will expand to stem cell and mouse models to better understand the gene’s impact and potential as a therapeutic target.

“This discovery not only deepens our understanding of Parkinson’s biology but also identifies promising new targets for drug development,” Dhindsa said. The study underscores the value of large-scale genetic analysis in identifying rare mutations linked to complex neurological disorders, paving the way for more personalized treatment strategies in the future.