Diseases of the Human Mitochondrial Oxidative Phosphorylation System

  • Julio MontoyaEmail author
  • Ester López-Gallardo
  • María Dolores Herrero-Martín
  • Íñigo Martínez-Romero
  • Aurora Gómez-Durán
  • David Pacheu
  • Magdalena Carreras
  • Carmen Díez-Sánchez
  • Manuel J. López-Pérez
  • Eduardo Ruiz-Pesini
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 652)


Mitochondrial diseases, or diseases of the oxidative phosphorylation system, consist of a group of disorders originated by a deficient synthesis of ATP. This system is composed of proteins codified in the two genetic systems of the cell, the nuclear and the mitochondrial genomes, and, therefore, the mode of inheritance could be either mendelian or maternal. The diseases can also appear sporadically. Due to the central role that mitochondria play in cellular physiology, these diseases are a social and health problem of great importance. They are considered rare diseases; however, together they constitute a large variety of genetic disorders.

It is also believed that mitochondria are involved, directly or indirectly, in many other human diseases, mainly in age-related diseases. This review will focus mainly on describing the special characteristics of the mitochondrial genetic system and the diseases caused by mitochondrial DNA mutations. We will also note the difficulties in studying these pathologies, and the possible involvement of the genetic variability of the mitochondrial genome in the development of these diseases.


Mitochondrial diseases Oxidative phosphorylation system Mitochondrial DNA Mitochondrial genetics Nuclear DNA 



This project was supported by grants from the Instituto de Salud Carlos III-FIS (PI07-0045 and PI05-0647) and the Diputación General de Aragón (Grupos Consolidados B33 and PM063-2007). CIBER de Enfermedades Raras (CIBERER) is an initiative of the ISCIII.


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Julio Montoya
    • 1
    Email author
  • Ester López-Gallardo
    • 2
  • María Dolores Herrero-Martín
    • 3
  • Íñigo Martínez-Romero
    • 3
  • Aurora Gómez-Durán
    • 3
  • David Pacheu
    • 3
  • Magdalena Carreras
    • 3
  • Carmen Díez-Sánchez
    • 3
  • Manuel J. López-Pérez
    • 3
  • Eduardo Ruiz-Pesini
    • 3
  1. 1.Departamento de Bioquímica y Biología Molecular y CelularUniversidad de ZaragozaZaragozaSpain
  2. 2.Services of Neurology, Clinical Neurophysiology and RadiologyUniversity Hospital “Marqués de Valdecilla”, University of Cantabria, CIBERNED and IFIMAVSantanderSpain
  3. 3.CIBER de Enfermedades Raras (CIBERER), ISCIII and Departamento de BioquímicaBiología Molecular y Celular, Universidad de ZaragozaZaragozaSpain

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