Study Identifies ITSN1 Gene Variants as a Major Risk Factor for Parkinson’s Disease
A groundbreaking study published in Cell Reports has uncovered a strong genetic link between variations in the ITSN1 gene and an increased risk of Parkinson’s disease. The research, led by an international team from Baylor College of Medicine, AstraZeneca, and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, provides new insights that could help develop targeted therapies to slow or prevent disease progression.
The findings were validated across three independent cohorts, including over 8,000 Parkinson’s cases and 400,000 controls. Notably, individuals carrying ITSN1 variants showed a tendency toward earlier disease onset, making this discovery particularly significant.
A New Genetic Breakthrough
Dr. Dhindsa, one of the lead researchers, highlighted the exceptional impact of ITSN1 on Parkinson’s risk, stating that its influence surpasses even well-known genes like LRRK2 and GBA1. “Rare genetic mutations often reveal critical disease mechanisms, and our findings could pave the way for promising new treatment targets,” Dhindsa explained.
ITSN1 plays a crucial role in synaptic transmission, the process by which neurons communicate. Since Parkinson’s disease is characterized by disruptions in nerve signaling, this gene’s involvement adds an important piece to the puzzle of disease progression. Experiments in fruit flies showed that lowering ITSN1 levels worsened Parkinson’s-like symptoms, such as impaired movement. Future studies will extend these investigations to stem cell and mouse models.
Possible Link Between Parkinson’s and Autism
Interestingly, ITSN1 mutations have also been linked to autism spectrum disorder (ASD). Emerging research suggests individuals with ASD are three times more likely to develop Parkinson’s-like symptoms later in life. This connection opens new avenues for studying the shared biological mechanisms between these two neurological conditions.
Advancing Parkinson’s Research
This study underscores the power of large-scale genetic sequencing in identifying rare mutations that contribute to complex diseases. By pinpointing ITSN1 as a potential therapeutic target, researchers hope to develop more effective treatments for Parkinson’s in the future.
The research team included experts from Baylor College of Medicine, AstraZeneca, Texas Children’s Hospital, Rice University, and the University of Melbourne. Key contributors to the study were Thomas P. Spargo, Chloe F. Sands, Isabella R. Juan, Jonathan Mitchell, Vida Ravanmehr, Jessica C. Butts, Ruth B. De-Paula, Youngdoo Kim, Fengyuan Hu, Quanli Wang, Dimitrios Vitsios, Manik Garg, Lawrence Middleton, Michal Tyrlik, Mirko Messa, Guillermo del Angel, Daniel G. Calame, Hiba Saade, Laurie Robak, Ben Hollis, Vishnu A. Cuddapah, Huda Y. Zoghbi, Joshua M. Shulman, Slavé Petrovski, Ismael Al-Ramahi, and Ioanna Tachmazidou.
With this breakthrough, researchers are hopeful that deeper genetic insights will lead to more effective interventions for Parkinson’s disease, ultimately improving the lives of millions worldwide.
