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Genomics

Organ roles for mitochondrial mutations?

Nature Reviews Genetics volume 15, page 4 (2014)Cite this article

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To investigate the degree and the distribution of intra-individual variation in mtDNA (which is known as heteroplasmy), Samuels et al. carried out high-throughput sequencing of mtDNA from ten normal human tissue types in each of two individuals. They also analysed similar published data sets from an additional two individuals. Interestingly, they found that somatic mtDNA mutations were distributed nonrandomly among tissues. For some tissues (such as the lung and large intestine) no somatic mtDNA mutations were identified, whereas other tissues (such as the liver, kidney and skeletal muscle) harboured particular somatic mtDNA mutations in up to 13% of mtDNA copies.

The identified mutations were primarily single-nucleotide variants (SNVs) and were surprisingly recurrent: nine SNVs were found in the same tissue in more than one individual, and the liver and kidney shared almost identical repertoires of SNVs, despite these organs being derived from distinct embryonic tissue types. These recurrent patterns show that the same somatic mtDNA mutations are occurring independently in multiple tissues and individuals.

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References

  1. Samuels, D. C. et al. Recurrent tissue-specific mtDNA mutations are common in humans. PLoS Genet. 9, e1003929 (2013)

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  1. Darren J. Burgess
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Schon, E. A., DiMauro, S. & Hirano, M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nature Rev. Genet. 13, 878–890 (2012)

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Burgess, D. Organ roles for mitochondrial mutations?. Nat Rev Genet 15, 4 (2014). https://doi.org/10.1038/nrg3640

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