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Physiology and Pathophysiology of Mitochondrial DNA

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Advances in Mitochondrial Medicine

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 942))

Abstract

Mitochondria are the only organelles in animal cells which possess their own genomes. Mitochondrial DNA (mtDNA) alterations have been associated with various human conditions. Yet, their role in pathogenesis remains largely unclear. This review focuses on several major features of mtDNA: (1) mtDNA haplogroup, (2) mtDNA common deletion, (3) mtDNA mutations in the control region or D-loop, (4) mtDNA copy number alterations, (5) mtDNA mutations in translational machinery, (6) mtDNA mutations in protein coding genes (7) mtDNA heteroplasmy. We will also discuss their implications in various human diseases.

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Acknowledgements

The work in the laboratory of the authors has been supported by NIH (R01 AG025223) and Chinese National Science Foundation (31070765/C050605, and 810004611/H1409).

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Authors and Affiliations

  1. Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical College, Wenzhou, Zhejiang, 325035, China

    Hongzhi Li, Danhui Liu, Jianxin Lu & Yidong Bai Ph.D.

  2. Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX, 78229, USA

    Yidong Bai Ph.D.

Authors
  1. Hongzhi Li
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  2. Danhui Liu
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  3. Jianxin Lu
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  4. Yidong Bai Ph.D.
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Correspondence to Yidong Bai Ph.D. .

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Editors and Affiliations

  1. School of Medicine, Institute of Biochemistry and Clinical B, Catholic University, Largo A. Gemelli 8, Rome, 00168, Italy

    Roberto Scatena

  2. School of Medicine, Institute of Biochemistry and Clinical B, Catholic University, Largo A. Gemelli 8, Rome, 00168, Italy

    Patrizia Bottoni

  3. School of Medicine, Institute of Biochemistry and Clinical B, Catholic University, Largo A. Gemelli 8, Rome, 00168, Italy

    Bruno Giardina

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Li, H., Liu, D., Lu, J., Bai, Y. (2012). Physiology and Pathophysiology of Mitochondrial DNA. In: Scatena, R., Bottoni, P., Giardina, B. (eds) Advances in Mitochondrial Medicine. Advances in Experimental Medicine and Biology, vol 942. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-2869-1_2

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