Mutation rate of mtDNA

The mutation rate of the mitochondrial genome is estimated as being some ten times faster than that of the nuclear genome. The high mutation rate seen with mtDNA is likely to be caused by a cumulative effect of the high levels of reactive oxygen species (ROS), the absence of histones and the limited DNA repair mechanisms available. This has three major consequences; 1) mtDNA has accumulated mutations throughout evolution, leading to many polymorphic differences between unrelated individuals; 2) mtDNA mutations are a relatively common cause of sporadic and inherited human disease; and 3) mtDNA accumulates somatic mutations throughout human life.

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