Myotonic dystrophy involves two types of chronically debilitating rare
neuromuscular diseases: type 1 (DM1) and type 2 (DM2). Both share similarities in molecular cause, clinical signs, and symptoms with DM2 patients usually displaying milder phenotypes. It is well documented that key clinical symptoms in DM are associated with a strong mis-regulation of
RNA metabolism observed in patient's cells. This mis-regulation is triggered by two leading DM-linked events: the sequestration of Muscleblind-like
proteins (MBNL) and the mis-regulation of the CUGBP
RNA-Binding Protein Elav-Like Family Member 1 (CELF1) that cause significant alterations to their important functions in RNA processing. It has been suggested that DM1 may be treatable through endogenous modulation of the expression of MBNL and CELF1
proteins. In this study, we analyzed the recent identification of the involvement of
microRNA (
miRNA) molecules in DM and focus on the modulation of these
miRNAs to therapeutically restore normal MBNL or CELF1 function. We also discuss additional prospective
miRNA targets, the use of
miRNAs as disease
biomarkers, and additional promising
miRNA-based and
miRNA-targeting
drug development strategies. This review provides a unifying overview of the dispersed data on
miRNA available in the context of DM.