Browse by author
Lookup NU author(s): Emeritus Professor Doug Turnbull,
Professor Robert Taylor
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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
Altmetrics provided by Altmetric