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mtDNA

  • Increased Total mtDNA Copy Number Cures Male Infertility Despite Unaltered mtDNA Mutation Load.

    Mutations of mtDNA cause mitochondrial diseases and are implicated in age-associated diseases and aging. Pathogenic mtDNA mutations are often present in a fraction of all mtDNA copies, and it has been widely debated whether the proportion of mutant genomes or the absolute number of wild-type molecules determines if oxidative phosphorylation (OXPHOS) will be impaired.

    Published August 4, 2017
  • Mitochondrial DNA copy number variation across human cancers.

    Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.

    Published February 29, 2016
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