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Mitochondrial Disorders Caused by Nuclear Genes

  • Book
  • © 2013

Overview

Editors:
  1. Lee-Jun C. Wong

    1. , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

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  • Covers recognizable syndromes and heterogeneous mitochondrial disease caused by specific genes

  • Readers will learn biochemical, molecular, clinical, and genetic aspects of the complex dual genome mitochondrial disorders

  • Examines different organs effected by mitochondrial disorder

  • Includes supplementary material: sn.pub/extras

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Table of contents (21 chapters)

  1. Front Matter

    Pages 1-1
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  2. Overview

    1. Front Matter

      Pages 1-1
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    2. The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders

      • Salvatore DiMauro, Valentina Emmanuele
      Pages 3-25

    3. Biochemical and Molecular Methods for the Study of Mitochondrial Disorders

      • Lee-Jun C. Wong
      Pages 27-45

  3. Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA Integrity

    1. Front Matter

      Pages 47-47
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    2. Mitochondrial Disorders Associated with the Mitochondrial DNA Polymerase g: A Focus on Intersubunit Interactions

      • Matthew J. Young, William C. Copeland
      Pages 49-72

    3. Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and Mitochondrial Disease

      • Russell P. Saneto, Bruce H. Cohen
      Pages 73-89

    4. Deoxyguanosine Kinase

      • David Paul Dimmock
      Pages 91-102

    5. MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion Syndrome

      • Ayman W. El-Hattab
      Pages 103-112

    6. Mitochondrial DNA Depletion due to Mutations in the TK2 Gene

      • Fernando Scaglia
      Pages 113-121

    7. Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)

      • Margherita Milone
      Pages 123-140

    8. Defects in Mitochondrial Dynamics and Mitochondrial DNA Instability

      • Patrick Yu-Wai-Man, Guy Lenaers, Patrick F. Chinnery
      Pages 141-161

    9. Depletion of mtDNA with MMA: SUCLA2 and SUCLG1

      • Nelson Hawkins Jr, Brett H. Graham
      Pages 163-169

    10. RRM2B-Related Mitochondrial Disease

      • 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
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    2. Complex Subunits and Assembly Genes: Complex I

      • Ann Saada (Reisch)
      Pages 185-202

    3. Mitochondrial Respiratory Chain Complex II

      • Jaya Ganesh, Lee-Jun C. Wong, Elizabeth B. Gorman
      Pages 203-218

    4. Mitochondrial Complex III Deficiency of Nuclear Origin:

      • Alberto Blázquez, Lorena Marín-Buera, María Morán, Alberto García-Bartolomé, Joaquín Arenas, Miguel A. Martín et al.
      Pages 219-238

    5. Mitochondrial Cytochrome c Oxidase Assembly in Health and Human Diseases

      • Flavia Fontanesi, Antoni Barrientos
      Pages 239-259

  5. Mitochondrial Protein Translation Related Diseases

    1. Front Matter

      Pages 261-261
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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 disorder usually affects multiple organs.

Editors and Affiliations

  • , Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA

    Lee-Jun C. Wong

Bibliographic Information

  • Book Title: Mitochondrial Disorders Caused by Nuclear Genes

  • Editors: Lee-Jun C. Wong

  • DOI: https://doi.org/10.1007/978-1-4614-3722-2

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Science+Business Media, LLC 2013

  • Hardcover ISBN: 978-1-4614-3721-5Published: 18 September 2012

  • Softcover ISBN: 978-1-4899-9241-3Published: 15 October 2014

  • eBook ISBN: 978-1-4614-3722-2Published: 18 September 2012

  • Edition Number: 1

  • Number of Pages: XII, 372

  • Topics: Human Genetics, Molecular Medicine, Biomedicine general

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