Parkinson hastalığında POLG varyantlarının çok atalı analizi

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Introduction Variants in the polymerase gamma ( POLG) gene are associated with a wide range of mitochondrial disorders. Emerging evidence suggests a potential link between POLG variants and Parkinson’s disease (PD); yet, results remain inconclusive. Objectives To investigate the genetic spectrum and prevalence of POLG variants in PD across diverse ancestries. Methods We leveraged multi-ancestry genetic data from the Global Parkinson’s Genetics Program (GP2), including genotyping data from 98,589 and short-read sequencing data from 36,022 individuals. We performed a POLG rare variant screen, case-control association, and gene-level burden analyses. Results Five PD cases carried potentially biallelic rare pathogenic/likely pathogenic POLG variants. Additionally, 228 individuals (Conclusions POLG variants are overall rare in PD. The identification of rare pathogenic variants among PD cases suggests that POLG -related mitochondrial dysfunction may contribute to PD in isolated instances, particularly under recessive inheritance. Our findings support a role for POLG variants in select cases and underscore the need for larger-scale sequencing and functional studies.

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