Case-Controlmoderate evidence
Biallelic hexose-6-phosphate dehydrogenase variants cause mitochondrial dysfunction underlying Parkinson's disease.
Science bulletin·July 13, 2026·PMID 42463407
Why it mattersParkinson's disease has a complex genetic architecture, and identifying new causative genes like H6PD expands the understanding of pathogenic mechanisms, particularly linking endoplasmic reticulum redox homeostasis to mitochondrial health. This discovery may inform future genetic testing panels and open avenues for targeted therapies aimed at restoring NADPH balance or mitophagy.
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