Mitochondrial Disorders Caused by Nuclear Genes

  • Lee-Jun C. Wong

Table of contents

  1. Front Matter
    Pages 1-1
  2. Overview

    1. Front Matter
      Pages 1-1
    2. Salvatore DiMauro, Valentina Emmanuele
      Pages 3-25
  3. Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity

    1. Front Matter
      Pages 47-47
    2. David Paul Dimmock
      Pages 91-102
    3. Patrick Yu-Wai-Man, Guy Lenaers, Patrick F. Chinnery
      Pages 141-161
    4. Nelson Hawkins Jr, Brett H. Graham
      Pages 163-169
    5. Gráinne S. Gorman, Robert D. S. Pitceathly, Douglass M. Turnbull, Robert W. Taylor
      Pages 171-182
  4. Complex Subunits and Assembly Genes

    1. Front Matter
      Pages 183-183
    2. Ann Saada (Reisch)
      Pages 185-202
    3. Jaya Ganesh, Lee-Jun C. Wong, Elizabeth B. Gorman
      Pages 203-218
    4. Alberto Blázquez, Lorena Marín-Buera, María Morán, Alberto García-Bartolomé, Joaquín Arenas, Miguel A. Martín et al.
      Pages 219-238
    5. Flavia Fontanesi, Antoni Barrientos
      Pages 239-259
  5. Mitochondrial Protein Translation Related Diseases

  6. Others

    1. Front Matter
      Pages 299-299
    2. Suzanne D. DeBrosse, Douglas S. Kerr
      Pages 301-317
    3. Stephanie M. Ware, Jeffrey A. Towbin
      Pages 319-335
  7. Back Matter
    Pages 352-352

About this book


Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells.  In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.  Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases.

Editors and affiliations

  • Lee-Jun C. Wong
    • 1
  1. 1., Dept. of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

Bibliographic information

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