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The Human Mitochondrial DNA

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Human Genome Structure, Function and Clinical Considerations

Abstract

Mitochondria are cellular organelles of outstanding importance because they are responsible for energy production and the control of many processes related to cell metabolism, survival and apoptosis. They are the only cytoplasmic organelles in the animal cells to contain their own DNA, a private genetic material, the mitochondrial DNA (mtDNA), which is frequently referred as “the mitochondrial genome”. In this article, the most important features of mtDNA are reviewed, regarding its structure, functioning, transmission and relation to diseases and aging. Moreover, mtDNA has peculiar properties such as maternal transmission and elevated rates of mutation, which make it an interesting source of information about human origins, dispersion and evolution.

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Acknowledgements

I am greatly indebted to Dr. Lilian Kimura and Ms. Vinícius Magalhães Borges for formatting and checking references and figure.

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Authors and Affiliations

  1. Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil

    Regina Célia Mingroni-Netto

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  1. Regina Célia Mingroni-Netto
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Correspondence to Regina Célia Mingroni-Netto .

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  1. Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil

    Luciana Amaral Haddad

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Mingroni-Netto, R.C. (2021). The Human Mitochondrial DNA. In: Haddad, L.A. (eds) Human Genome Structure, Function and Clinical Considerations. Springer, Cham. https://doi.org/10.1007/978-3-030-73151-9_10

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