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 and Ana Delgado Pavón, Isabel de Lavera, Fernando Galán, Patricia Ybot-González, José A. Sánchez-Alcázar
Affiliation:
关键词:
AMPK，罕见疾病，线粒体疾病，肌营养不良症，共济失调毛细血管扩张、Peutz-Jeghers综合征，沃尔夫帕金森白色综合征，AMPK基因突变。
摘要: 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.
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