Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies.
Jorge Espinosa-EspinosaAnchel González-BarrigaArturo López-CastelRubén ArteroPublished in: International journal of molecular sciences (2022)
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.
Keyphrases
- single cell
- muscular dystrophy
- artificial intelligence
- rna seq
- high throughput
- end stage renal disease
- machine learning
- dna methylation
- genome wide
- big data
- ejection fraction
- chronic kidney disease
- newly diagnosed
- deep learning
- poor prognosis
- peritoneal dialysis
- prognostic factors
- case control
- gene expression
- emergency department
- current status
- long non coding rna
- glycemic control
- patient reported outcomes
- binding protein
- genome wide identification
- drug induced