H6PD Identified as Parkinson’s Causal Gene Linking ER-Mitochondria Disruption to Neurodegeneration

Parkinson’s disease has long been understood as the product of a complicated interplay between inherited susceptibility and environmental stress. They then examined data from 6,233 people with Parkinson’s disease and 7,301 control individuals. When these animals were exposed to MPTP, a neurotoxin widely used to model Parkinson’s disease, H6PD deficiency intensified dopaminergic neuronal loss and worsened mitochondrial abnormalities. Subject of Research: Biallelic H6PD variants as a cause of autosomal recessive Parkinson’s disease, and their effects on ER-mitochondria contact sites, oxidative stress and mitophagy. Article Title: Biallelic H6PD Variants Cause Parkinson’s Disease Through Disruption of ER-Mitochondria Contact SitesWeb References: https://doi.org/10.1016/j.scib.2026.07.038References: Science Bulletin, DOI: 10.1016/j.scib.2026.07.038Image Credits: © Science BulletinKeywords: Parkinson’s disease, H6PD, autosomal recessive inheritance, mitochondria-associated membranes, endoplasmic reticulum, mitochondrial dysfunction, mitophagy, PINK1-Parkin pathway, oxidative stress, dopaminergic neurons