Functional analysis of a novel POL γA mutation associated with a severe perinatal mitochondrial encephalomyopathy

DNA polymerase gamma (POL γ) is a nuclear-encoded protein that replicates mitochondrial DNA (mtDNA). Human POLγ is a heterotrimer comprising the catalytic POLγA subunit and a dimeric POLγB processivity factor [1]. POLγA has 5′-3′ DNA polymerase and 3′-5′ exonuclease activities, maintaining a relatively constant mtDNA copy number [1, 2]. Mutations in the gene encoding POLγA (POLG) are a common cause of mitochondrial disease, with over 300 causative mutations reported [3] (https://tools.niehs.nih.gov/polg/).

Source: Neuromuscular Disorders - January 11, 2021 Category: Neurology Authors: Niklas Darin, Triinu Siibak, Bradley Peter, Carola Hedberg-Oldfors, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg Source Type: research