Article
Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's Disease.
Genes - 17 Apr 2026
Bergant Gaber, van Midden Vesna M, Tsygankova Polina, Laslo Dorian, Rački Valentino, Georgiev Dejan, Papić Eliša, Branković Marija, Janković Milena, Svetel Marina, Teran Nataša, Misković Natasa Dragasević, Petrović Igor, Maver Aleš, Novaković Ivana, Pirtošek Zvezdan, Rakuša Martin, Vuletić Vladimira, Peterlin Borut
Abstract excerpt
Introduction: Parkinson's disease (PD) is a prevalent neurodegenerative disorder, with several proposed pathogenic mechanisms. Given the established role of mitochondrial dysfunction in PD, this study seeks to investigate the enrichment of rare genetic variants tied to mitochondrial metabolism in cases of early-onset and familial PD. Methods: We performed a retrospective analysis on 248 early-onset and familial...
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