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

doi:10.1016/j.bbamcr.2008.06.003

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

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 language	English
Pages (from-to)	171-180
Number of pages	10
Journal	Biochimica et Biophysica Acta - Molecular Cell Research
Volume	1793
Issue number	1
DOIs	https://doi.org/10.1016/j.bbamcr.2008.06.003
Publication status	Published - Jan 2009

Keywords

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

ASJC Scopus subject areas

Cell Biology
Molecular Biology

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abstract = "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.",

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