title: AMPK As A Target in Rare Diseases.
abstract: The AMP-activated protein kinase (AMPK) has emerged as an important sensor of signals that control cellular energy balance in all eukaryotes. AMPK is also involved in fatty acid oxidation, glucose transport, antioxidant defense, mitochondrial biogenesis and the modulation of inflammatory processes. The numerous roles of AMPK in cell physiological and pathological states justified the notable increase in the number of publications in previous years, with almost 1500 scientific articles relative to this kinase in 2014. Due to its role in maintaining energy balance, a dysfunction in AMPK signalling pathway may result in perturbations at the systemic level that contribute to the development of many disease conditions. Among them, more than 7000 poorly-known rare diseases are particularly of social and scientific interest because they are usually chronically debilitating or even lifethreatening and lack effective and safe treatment. Several authors have demonstrated AMPK alterations and the beneficial effect of treatments with drugs regulating AMPK activity in some of these low prevalence pathologies. Among these rare diseases in which AMPK can play an important pathological role are mitochondrial disorders, muscular dystrophies, cardiovascular diseases, neurodegenerative pathologies, or even some types of cancer for the importance of AMPK as a suppressor of cell proliferation. This review focuses on current knowledge about the pathophysiological roles of AMPK and future approaches as therapeutic targeting in rare diseases.
authors.forename: David
authors.initials: D
authors.lastname: Cotán
authors.forename: Marina Villanueva
authors.initials: MV
authors.lastname: Paz
authors.forename: Elizabet
authors.initials: E
authors.lastname: Alcocer-Gómez
authors.forename: Juan
authors.initials: J
authors.lastname: Garrido-Maraver
authors.forename: Manuel
authors.initials: M
authors.lastname: Oropesa-Ávila
authors.forename: Mario
authors.initials: M
authors.lastname: de la Mata
authors.forename: Ana Delgado
authors.initials: AD
authors.lastname: Pavón
authors.forename: Isabel
authors.initials: I
authors.lastname: de Lavera
authors.forename: Fernando
authors.initials: F
authors.lastname: Galán
authors.forename: Patricia
authors.initials: P
authors.lastname: Ybot-González
authors.affiliation: Centro Andaluz de Biología del Desarrollo (CABD), Universidad Pablo de Olavide-Consejo Superior de Investigaciones Científicas, Carretera de Utrera Km 1, Sevilla 41013, Spain. jasanalc@upo.es.
authors.forename: José A
authors.initials: JA
authors.lastname: Sánchez-Alcázar
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000037:antagonists & inhibitors / Q000737:chemistry / Q000378:metabolism*; D000818:Animals; D049109:Cell Proliferation; D004734:Energy Metabolism / Q000187:drug effects; D006801:Humans; D010084:Oxidation-Reduction / Q000187:drug effects; D010766:Phosphorylation; D047428:Protein Kinase Inhibitors / Q000494:pharmacology* / Q000627:therapeutic use; D035583:Rare Diseases / Q000188:drug therapy* / Q000201:enzymology; D015398:Signal Transduction
chemical_list: D047428:Protein Kinase Inhibitors; D055372:AMP-Activated Protein Kinases