Mitochondrial Mutations: Genotype to Phenotype

  1. Derek J. Chadwick Organizer and
  2. Jamie Goode
  1. Eric A. Schon1,2 and
  2. Salvatore DiMauro1

Published Online: 20 MAY 2008

DOI: 10.1002/9780470725207.ch15

Mitochondrial Biology: New Perspectives: Novartis Foundation Symposium 287

Mitochondrial Biology: New Perspectives: Novartis Foundation Symposium 287

How to Cite

Schon, E. A. and DiMauro, S. (2007) Mitochondrial Mutations: Genotype to Phenotype, in Mitochondrial Biology: New Perspectives: Novartis Foundation Symposium 287 (eds D. J. Chadwick and J. Goode), John Wiley & Sons, Ltd, Chichester, UK. doi: 10.1002/9780470725207.ch15

Author Information

  1. 1

    Department of Neurology, Room 4-431, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA

  2. 2

    Genetics and Development, Columbia University Medical School, 630 West 168th Street, New York, NY 10032, USA

Publication History

  1. Published Online: 20 MAY 2008
  2. Published Print: 5 OCT 2007

Book Series:

  1. Novartis Foundation Symposia

Book Series Editors:

  1. Novartis Foundation

ISBN Information

Print ISBN: 9780470066577

Online ISBN: 9780470725207

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Keywords:

  • mitochondria;
  • respiratory chain;
  • mtDNA;
  • disease

Summary

Diseases associated with defects of the mitochondrial respiratory chain fall into four major categories: (1) those due to mutations in respiratory chain subunits; (2) those due to mutations that affect respiratory chain assembly; (3) those due to mutations that affect respiratory chain function indirectly, either via alterations in the translation of mtDNA-encoded polypeptides or via alterations in mtDNA integrity; and (4) those due to mutations in nDNA that affect organellar morphology and mobility, in which defects in respiratory chain function can be considered to be ‘collateral damage’. All four categories will be discussed.