The role of non-coding RNAs in the pathogenesis of myotonic dystrophy type 1
DOI:
https://doi.org/10.35366/103941Keywords:
Myotonic dystrophy, ncRNA, miRNAs, lncRNAs, circRNAAbstract
Myotonic dystrophy type 1 (DM1) is the most common muscular dystrophy in adults with a prevalence
of 1/8,000 worldwide. DM1 is a multisystem disorder with a complex pathophysiology. Spliciopathy is
the mechanism with the greatest impact on the pathogenesis and is also the most studied. However,
other mechanisms like deregulation of non-coding RNAs (ncRNAs) have been described that contribute
to the pathogenesis. ncRNAs, particularly miRNAs, participate in the development, differentiation,
and regeneration of muscle tissue in DM1. The potential role of some miRNAs as DM1 biomarkers
has been revealed from patient’s serum studies. More recent studies, described antisense DM1 RNA,
now classified as a lncRNA, with a potential role in the formation of siRNAs, chromatin modifying,
and RAN translation mechanisms. Nonetheless, lncRNA have not been described in DM1, and it
would therefore be interesting to investigate the role they play in this disease. It appears that ncRNAs
play an important role in DM1, adding new elements to the previously described mechanisms, which
improve our understanding of this complex disease, leaving still a lot to be discovered
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