AUTHOR=Mateos-Aierdi Alba Judith , Goicoechea Maria , Aiastui Ana , Fernández-Torrón Roberto , Garcia-Puga Mikel , Matheu Ander , López de Munain Adolfo TITLE=Muscle wasting in myotonic dystrophies: a model of premature aging JOURNAL=Frontiers in Aging Neuroscience VOLUME=7 YEAR=2015 URL=https://www.frontiersin.org/journals/aging-neuroscience/articles/10.3389/fnagi.2015.00125 DOI=10.3389/fnagi.2015.00125 ISSN=1663-4365 ABSTRACT=
Myotonic dystrophy type 1 (DM1 or Steinert’s disease) and type 2 (DM2) are multisystem disorders of genetic origin. Progressive muscular weakness, atrophy and myotonia are the most prominent neuromuscular features of these diseases, while other clinical manifestations such as cardiomyopathy, insulin resistance and cataracts are also common. From a clinical perspective, most DM symptoms are interpreted as a result of an accelerated aging (cataracts, muscular weakness and atrophy, cognitive decline, metabolic dysfunction, etc.), including an increased risk of developing tumors. From this point of view, DM1 could be described as a progeroid syndrome since a notable age-dependent dysfunction of all systems occurs. The underlying molecular disorder in DM1 consists of the existence of a pathological (CTG) triplet expansion in the 3′ untranslated region (UTR) of the