Mitochondrial Diseases

1. Front Matter

   Pages i-vi

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2. Mtochonrial Neurology: A Tale of Two Genomes

   • Salvatore DiMauro, Emanuele Barca

   Pages 1-31

3. Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain

   • Cristina Cerqua, Lisa Buson, Eva Trevisson

   Pages 33-68

4. Mitochondrial DNA: Defects, Maintenance Genes and Depletion

   • Miguel A. Fernández-Moreno, Luis Vázquez-Fonseca, Sara Palacios Zambrano, Rafael Garesse

   Pages 69-94

5. Mitochondrial Translation Deficiencies

   • Veronika Boczonadi, Juliane S. Müller, Rita Horvath

   Pages 95-117

6. Mitochondria Dynamics: Definition, Players and Associated Disorders

   • Maria Eugenia Soriano, Marta Carro Alvarellos, Giovanni Rigoni, Luca Scorrano

   Pages 119-142

7. Coenzyme Q Biosynthesis Disorders

   • Gloria Brea-Calvo, María Alcázar-Fabra, Eva Trevisson, Plácido Navas

   Pages 143-190

8. Cytochrome c Defects in Human Disease

   • Leonardo Salviati

   Pages 191-200

9. Biochemical Diagnosis of Mitochondrial Disorders

   • Delia Yubero, Raquel Montero, Rafael Artuch

   Pages 201-214

10. Molecular Genetics in the Next Generation Sequencing Era

    • Joaquin Dopazo

    Pages 215-230

11. Model Cells and Organisms in Mitochondrial Diseases

    • Rhoda Stefanatos, Alberto Sanz, Daniel J. M. Fernandez-Ayala

    Pages 231-271

12. Therapies Approaches in Mitochondrial Diseases

    • Valentina Emmanuele, Catarina M. Quinzii, Michio Hirano

    Pages 273-305

Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach.

This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options.


Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research.


This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.

• Mitochondrial DNA
• Human genome
• Mitochondrial diseases
• Respiratory chain
• Coenzyme Q deficiency
• Genome sequencing

• Centro Andaluz Biología del Desarrollo and CIBERER, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CSIC, Sevilla, Spain

  Placido Navas

• Department of Women’s and Children’s Health, University of Padova and IRP Città della Speranza, Padova, Italy

  Leonardo Salviati

Plácido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morré and F. L. Crane at Purdue University, Indiana. After a period of Associate Professor at the University of Cordoba, he became Professor of Cell Biology at the University Pablo de Olavide, Seville, principal investigator at the Centro de Investigación Biomédicaen Red (CIBER) of Rare Diseases, and he is the current Director of the Andalussian Center for Developmental Biology (CABD). His research has focused on the coenzyme Q homeostasis in respiratory chain and aging, and on the molecular diagnosis of coenzyme Q deficiency syndrome.

Leonardo Salviati obtained his MD and PhD degrees at the University of Padova in Italy. After a postdoctoral fellowship in the labs of Salvatore Di Mauro and Eric Schon at Columbia University in New York, he was recruited by the department of Pediatrics of the University of Padova, where he is currently professor of Medical Genetics, and director of the Clinical Genetics Unit and of the Medical Genetics Residency Program. His research has focused on mitochondrial disorders, with a particular focus on coenzyme Q deficiency.

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