Mouse models of oxidative phosphorylation defects: Powerful tools to study the pathobiology of mitochondrial diseases

Alessandra Torraco, Francisca Diaz, Uma D. Vempati, Carlos T. Moraes

Research output: Contribution to journalArticle


Defects in the oxidative phosphorylation system (OXPHOS) are responsible for a group of extremely heterogeneous and pleiotropic pathologies commonly known as mitochondrial diseases. Although many mutations have been found to be responsible for OXPHOS defects, their pathogenetic mechanisms are still poorly understood. An important contribution to investigate the in vivo function of several mitochondrial proteins and their role in mitochondrial dysfunction, has been provided by mouse models. Thanks to their genetic and physiologic similarity to humans, mouse models represent a powerful tool to investigate the impact of pathological mutations on metabolic pathways. In this review we discuss the main mouse models of mitochondrial disease developed, focusing on the ones that directly affect the OXPHOS system.

Original languageEnglish
Pages (from-to)171-180
Number of pages10
JournalBiochimica et Biophysica Acta - Molecular Cell Research
Issue number1
Publication statusPublished - Jan 2009



  • Conditional knockout mouse
  • Knock-in mouse
  • Knockout mouse
  • Mitochondria
  • Mitochondrial disease

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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