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Novel mitochondrial variants associated with Parkinson's disease reveal a high heteroplasmy-weighted polygenic risk score in Brazilians

2026-01-16 genetic and genomic medicine Title + abstract only
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Mitochondrial single-nucleotide variants (mtSNVs) can dysregulate cellular bioenergetics and have been increasingly implicated in susceptibility to Parkinsons disease (PD). These variants may impair oxidative metabolism and respiratory chain efficiency, thus contributing to neuronal dysfunction and degeneration. In peripheral blood, mtSNVs may also reflect systemic immunometabolic alterations associated with PD; however, this aspect remains poorly explored, particularly in admixed populations wi...

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