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26 - The legacy of mitochondrial DNA

from Section 5 - Pathology

Published online by Cambridge University Press:  05 October 2013

By
Helen A.L. Tuppen ,
Mary Herbert  and
Doug M. Turnbull
Edited by
Alan Trounson ,
Roger Gosden  and
Ursula Eichenlaub-Ritter
Helen A.L. Tuppen
Affiliation:
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK
Mary Herbert
Affiliation:
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Bioscience Centre, International Centre for Life, Newcastle-upon-Tyne, UK
Doug M. Turnbull
Affiliation:
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK
Alan Trounson
Affiliation:
California Institute for Regenerative Medicine
Roger Gosden
Affiliation:
Center for Reproductive Medicine and Infertility, Cornell University, New York
Ursula Eichenlaub-Ritter
Affiliation:
Universität Bielefeld, Germany
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Summary

Introduction

Present in all nucleated cells, mitochondria are essential subcellular organelles that play a crucial role in several different biochemical processes, including energy production. Mitochondria are believed to be evolutionary relics of ancient bacterial symbionts [1], and an important legacy of this history is the persistence within these organelles of a small genome, termed mitochondrial DNA (mtDNA). MtDNA is the only extranuclear source of DNA in the cell and it follows a different mode of inheritance from nuclear DNA. We highlight the important role of mitochondria in reproduction and why this small molecule of DNA presents so many interesting and important challenges particularly in reproductive biology.

Mitochondrial function

Mitochondria are double-membraned structures which are central to a multitude of biological functions in all nucleated mammalian cells, including the regulation of apoptotic cell death, the control of cytosolic calcium concentration, and the biogenesis of iron–sulfur clusters. Mitochondria are also the primary source of endogenous reactive oxygen species and they house several critical biochemical pathways, including the tricarboxylic acid cycle and part of the urea cycle. However, arguably the most important function of mitochondria is the production of ATP, the energy carrier of the cell, via oxidative phosphorylation (OXPHOS). OXPHOS requires the coordinated activity of five multi-subunit enzyme complexes located in the inner mitochondrial membrane. Electrons, resulting from the oxidation of fat and carbohydrates, are transported along complexes I–IV, thus creating an electrochemical gradient for protons across the inner mitochondrial membrane that drives the synthesis of ATP by complex V (ATP synthase).

Type
Chapter
Information
Biology and Pathology of the Oocyte
Role in Fertility, Medicine and Nuclear Reprograming
 , pp. 306 - 317
Publisher: Cambridge University Press
Print publication year: 2013

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  • The legacy of mitochondrial DNA
    • By Helen A.L. Tuppen, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK, Mary Herbert, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Bioscience Centre, International Centre for Life, Newcastle-upon-Tyne, UK, Doug M. Turnbull, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.027
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  • The legacy of mitochondrial DNA
    • By Helen A.L. Tuppen, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK, Mary Herbert, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Bioscience Centre, International Centre for Life, Newcastle-upon-Tyne, UK, Doug M. Turnbull, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.027
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • The legacy of mitochondrial DNA
    • By Helen A.L. Tuppen, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK, Mary Herbert, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Bioscience Centre, International Centre for Life, Newcastle-upon-Tyne, UK, Doug M. Turnbull, Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University Medical School, Newcastle-upon-Tyne, UK
  • Edited by Alan Trounson, Roger Gosden, Ursula Eichenlaub-Ritter, Universität Bielefeld, Germany
  • Book: Biology and Pathology of the Oocyte
  • Online publication: 05 October 2013
  • Chapter DOI: https://doi.org/10.1017/CBO9781139135030.027
Available formats
×