Table of contents

  1. Front Matter
    Pages i-xi
  2. Mitochondrial Disorder: A Complex Disease of the Two Genomes

  3. Biochemical Analysis of Mitochondrial Disorders

    1. Front Matter
      Pages 47-47
    2. Douglas Kerr, George Grahame, Ghunwa Nakouzi
      Pages 93-119
    3. Ramon Martí, Beatriz Dorado, Michio Hirano
      Pages 135-148
    4. Si Houn Hahn, Sandra Kerfoot, Valeria Vasta
      Pages 169-179
    5. Florin Sasarman, Eric A. Shoubridge
      Pages 207-217
    6. Sajna Antony Vithayathil, Yewei Ma, Benny Abraham Kaipparettu
      Pages 219-230
    7. Erzsebet Polyak, Zhe Zhang, Marni J. Falk
      Pages 241-255
  4. Molecular Analysis of Mitochondrial Disorders

    1. Front Matter
      Pages 257-257
    2. Megan L. Landsverk, Megan E. Cornwell, Meagan E. Palculict
      Pages 281-300
    3. Victor Venegas, Michelle C. Halberg
      Pages 313-326
    4. Victor Venegas, Michelle C. Halberg
      Pages 327-335
  5. Back Matter
    Pages 349-352

About this book


Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential.  Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field.  Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects.  Written in the highly successful Methods in Molecular Biology™ series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.


Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.


Biochemical analysis DNA-based approaches Mitochondrial genome Molecular analysis Molecular defects Mutations Nuclear genome

Editors and affiliations

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

Bibliographic information

  • DOI
  • Copyright Information Springer Science+Business Media, LLC 2012
  • Publisher Name Humana Press
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-61779-503-9
  • Online ISBN 978-1-61779-504-6
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site