HMGCR genetic variability in Parkinson's disease in a Spanish cohort: associations with lipid metabolism and early onset.

ABSTRACT: Lipid metabolism has emerged as a key factor in the pathophysiology of Parkinson's disease (PD). While 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR), the rate-limiting enzyme in cholesterol biosynthesis, has been implicated in neurodegenerative disorders, such as Alzheimer disease, its role in PD remains unexplored. Given the shared pathological features between these neurodegenerative disorders (such as lysosomal dysfunction and lipid dysregulation) we hypothesized that HMGCR genetic variability could influence PD susceptibility and/or phenotypic expression, particularly in early-onset cases (EOPD). Therefore, we performed targeted sequencing of HMGCR in 1162 Spanish PD patients and analyzed associations with PD risk or age at onset. Replication was attempted in 436 PD cases fro

SUBMITTER: Diaz-Belloso R 

PROVIDER: S-EPMC12491363 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature