title: Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies.
abstract: Mitochondrial defects are the cause of numerous disorders affecting the oxidative phosphorylation system (OXPHOS) in humans leading predominantly to neurological and muscular degeneration. The molecular origin, manifestations, and progression of mitochondrial diseases have a broad spectrum, which makes very challenging to find a globally effective therapy. The study of the molecular mechanisms underlying the mitochondrial dysfunction indicates that there is a wide range of pathways, enzymes and molecules that can be potentially targeted for therapeutic purposes. Therefore, focusing on the pathology of the disease is essential to design new treatments. In this review, we will summarize and discuss the different therapeutic interventions tested in some mouse models of mitochondrial diseases emphasizing the molecular mechanisms of action and their potential applications.
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: 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 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; D004032:Diet / Q000379:methods; D004195:Disease Models, Animal; D015316:Genetic Therapy / Q000379:methods; D051379:Mice; D028361:Mitochondrial Diseases / Q000235:genetics / Q000628:therapy*; D024101:Mitochondrial Proteins / Q000172:deficiency*; D001678:Organelle Biogenesis; D010088:Oxidoreductases / Q000172:deficiency*
chemical_list: D024101:Mitochondrial Proteins; D010088:Oxidoreductases
keywords: Mitochondria; Mitochondrial diseases; Mouse models; OXPHOS; Oxidative phosphorylation
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