title: Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.
abstract: Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.
authors: Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Via Irnerio 42, 40128 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: SPeralta@med.miami.edu.
authors: Susana
authors: S
authors: Peralta
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: 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 / Q000473:pathology* / Q000503:physiopathology*; D010085:Oxidative Phosphorylation
keywords: Mitochondrial DNA; Mitochondrial diseases; Mitochondrial dynamics; Mitochondrial transcription; Mouse models; Quality control
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