Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease
Movement Disorders2018Vol. 33(10), pp. 1591–1600
Citations Over TimeTop 10% of 2018 papers
Johannes Jernqvist Gaare, Gonzalo S. Nido, Paweł Sztromwasser, Per M. Knappskog, Olav Dahl, Morten Lund‐Johansen, Jodi Maple‐Grødem, Guido Alves, Ole‐Bjørn Tysnes, Stefan Johansson, Kristoffer Haugarvoll, Charalampos Tzoulis
Abstract
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.
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