An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders.

@article{Herrnstadt2004AnEP,
  title={An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders.},
  author={Corinna Herrnstadt and Neil Howell},
  journal={Mitochondrion},
  year={2004},
  volume={4 5-6},
  pages={791-8}
}
More than 75 human diseases have been associated with mitochondrial dysfunction, and many of these are directly caused by overtly pathogenic mutations in the mitochondrial genome (mtDNA). In addition, there have been a number of reports that posit a different, subtler role for mtDNA substitutions in the disease process. As we review here, mtDNA evolution has resulted in the distribution of sequences into continent-specific haplogroups, which are defined by a relatively small number of… CONTINUE READING

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