Lookup NU author(s): Professor Doug Turnbull,
Professor Robert Taylor
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Human mitochondrial DNA (mtDNA) polymerase gamma (pol gamma) is the sole enzyme required to replicate and maintain the integrity of the mitochondrial genome. It comprises two subunits, a catalytic p140 subunit and a smaller p55 accessory subunit encoded by the POLG2 gene. We describe the molecular characterization of a potential dominant POLG2 mutation (p.R369G) in a patient with adPEO and multiple mtDNA deletions. Biochemical studies of the recombinant mutant p55 protein showed a reduced affinity to the pol gamma p140 subunit, leading to impaired processivity of the holoenzyme complex but did not show sensitivity to N-ethylmalaimide (NEM) inhibition, inferring a novel disease mechanism. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.
Author(s): Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW
Publication type: Article
Publication status: Published
Print publication date: 03/12/2011
ISSN (print): 1567-7249
ISSN (electronic): 1872-8278
Publisher: Elsevier BV
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