AMPK As A Target in Rare Diseases

Title:AMPK As A Target in Rare Diseases

Volume: 17 Issue: 8

Author(s): David Cotán, Marina Villanueva Paz, Elizabet Alcocer-Gómez, Juan Garrido-Maraver, Manuel Oropesa-Ávila, Mario de la Mata, Ana Delgado Pavón, Isabel de Lavera, Fernando Galán, Patricia Ybot-González and José A. Sánchez-Alcázar

Affiliation:

Keywords: AMPK, rare diseases, mitocondrial diseases, muscular dystrophies, ataxia-telangiectasia, Peutz-Jeghers syndrome, Wolff-Parkinson-White syndrome, AMPK mutations.

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.

Cite this article as:

Cotán David, Villanueva Paz Marina, Alcocer-Gómez Elizabet, Garrido-Maraver Juan, Oropesa-Ávila Manuel, de la Mata Mario, Delgado Pavón Ana, de Lavera Isabel, Galán Fernando, Ybot-González Patricia and A. Sánchez-Alcázar José, AMPK As A Target in Rare Diseases, Current Drug Targets 2016; 17 (8) . https://dx.doi.org/10.2174/1389450117666160112110204