title: Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.
abstract: Mitochondrial disorders are the most common inborn errors of metabolism affecting the oxidative phosphorylation system (OXPHOS). Because of the poor knowledge of the pathogenic mechanisms, a cure for these disorders is still unavailable and all the treatments currently in use are supportive more than curative. Therefore, in the past decade a great variety of mouse models have been developed to assess the in vivo function of several mitochondrial proteins involved in human diseases. Due to the genetic and physiological similarity to humans, mice represent reliable models to study the pathogenic mechanisms of mitochondrial disorders and are precious to test new therapeutic approaches. Here we summarize the features of several mouse models of mitochondrial diseases directly related to defects in subunits of the OXPHOS complexes or in assembly factors. We discuss how these models recapitulate many human conditions and how they have contributed to the understanding of mitochondrial function in health and disease.
authors: Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Viale di San Paolo, 15-00146 Rome, Italy. Electronic address: alessandra.torraco@opbg.net.
authors: Alessandra
authors: A
authors: Torraco
authors: Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, USA. Electronic address: SPeralta@med.miami.edu.
authors: Susana
authors: S
authors: Peralta
authors: Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Via Irnerio 42, 40126 Bologna, Italy. Electronic address: luisa.iommarini2@unibo.it.
authors: Luisa
authors: L
authors: Iommarini
authors: Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, USA. Electronic address: fdiaz1@med.miami.edu.
authors: Francisca
authors: F
authors: Diaz
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D028361:Mitochondrial Diseases / Q000503:physiopathology*; D024101:Mitochondrial Proteins / Q000172:deficiency* / Q000378:metabolism; D010085:Oxidative Phosphorylation
chemical_list: D024101:Mitochondrial Proteins
keywords: Mitochondria; Mitochondrial diseases; Mouse models; OXPHOS; Oxidative phosphorylation