TY - JOUR
T1 - Mouse models of oxidative phosphorylation defects
T2 - Powerful tools to study the pathobiology of mitochondrial diseases
AU - Torraco, Alessandra
AU - Diaz, Francisca
AU - Vempati, Uma D.
AU - Moraes, Carlos T.
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Conditional knockout mouse
KW - Knock-in mouse
KW - Knockout mouse
KW - Mitochondria
KW - Mitochondrial disease
UR - http://www.scopus.com/inward/record.url?scp=56349140990&partnerID=8YFLogxK
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U2 - 10.1016/j.bbamcr.2008.06.003
DO - 10.1016/j.bbamcr.2008.06.003
M3 - Article
C2 - 18601959
AN - SCOPUS:56349140990
VL - 1793
SP - 171
EP - 180
JO - Biochimica et Biophysica Acta - Molecular Cell Research
JF - Biochimica et Biophysica Acta - Molecular Cell Research
SN - 0167-4889
IS - 1
ER -