Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies

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.

Automated summary

Omics studies are crucial for understanding DM1, revealing various changes in gene and microRNA expression, alternative splicing, 3 ' polyadenylation, CpG methylation, and protein levels. Moreover, omics characterization of drug treatment experiments provides insights into therapeutic rescue and off-target effects. Innovative technologies like single-cell sequencing and AI will have a significant impact on future DM1 research.