Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.
Johannes J GaareGonzalo S NidoPaweł SztromwasserPer M KnappskogOlav DahlMorten Lund-JohansenJodi Maple-GrødemGuido AlvesOle-Bjørn TysnesStefan JohanssonKristoffer HaugarvollCharalampos TzoulisPublished in: Movement disorders : official journal of the Movement Disorder Society (2018)
Our results show that the enrichment of rare inherited variation in the pathway controlling mitochondrial DNA replication and repair influences the risk of PD. We propose that this polygenic enrichment contributes to the impairment of mitochondrial DNA homeostasis, thought to be a key mechanism in the pathogenesis of PD, and explains part of the disorder's "missing heritability." © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.