Study Links ITSN1 Gene Variant to Increased Risk of Parkinson’s Disease and Autism Spectrum Disorder

A recent study has identified genetic variants in the ITSN1 gene associated with a heightened risk of developing Parkinson’s disease and autism spectrum disorder (ASD). Researchers examined nearly 500,000 genetic profiles and determined that individuals carrying specific ITSN1 variants face up to a tenfold increased likelihood of being diagnosed with Parkinson’s. The findings also suggest potential links between these variants and ASD.

The analysis involved an extensive dataset, allowing researchers to pinpoint correlations between the ITSN1 gene and neurological conditions. While the primary focus was on Parkinson’s disease, evidence emerged indicating that these genetic variations may also play a role in increasing susceptibility to ASD. The study highlights the importance of further investigating how ITSN1 influences brain function and development, as well as its implications for understanding complex neurological disorders.

Date: 12 March, 2025

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Author

Mark Chiang

Ph.D in Biomedical Informatics Head of AI at GeneOnline