The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers.

ABSTRACT: Polg mtDNA mutator mice are important models for investigating the role of acquired mtDNA mutations in aging. Despite extensive study, there remains little consensus on either the etiology of the progeroid phenotype or the mtDNA mutation spectrum induced by disrupted polymerase-γ function. To investigate the latter, we have developed a novel, pragmatic approach we term "Mito-seq," applying next-generation sequencing to enriched, native mtDNA. Regardless of detection parameters we observed an increase of at least two orders of magnitude in the number of mtDNA single nucleotide variants in Polg mutator mice compared to controls. We found no evidence for the accumulation of canonical mtDNA deletions but multimers of the mtDNA control region were identified in brain and heart. These control re

SUBMITTER: Williams SL 

PROVIDER: S-EPMC3175596 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature