Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
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| Authors: | Jorge Espinosa-Espinosa,Anchel Gonzá lez-Barriga,Arturo Ló pez-Castel,Rubé n Artero |
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| Affiliation: | 1.University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Valencia, Spain; (J.E.-E.); (R.A.);2.Translational Genomics Group, Incliva Biomedical Research Institute, 46010 Valencia, Spain;3.Centre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Université, 75013 Paris, France; |
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| Abstract: | Omics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. Employing tissue samples and cell lines derived from patients and animal models, omics approaches have revealed the myriad alterations in gene and microRNA expression, alternative splicing, 3′ polyadenylation, CpG methylation, and proteins levels, among others, that contribute to this complex multisystem disease. In addition, omics characterization of drug candidate treatment experiments provides crucial insight into the degree of therapeutic rescue and off-target effects that can be achieved. Finally, several innovative technologies such as single-cell sequencing and artificial intelligence will have a significant impact on future DM1 research. |
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