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RNA-mediated therapies in myotonic dystrophy
- Source :
- DRUG DISCOVERY TODAY, r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF), instname, r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA, r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF), Centro de Investigación Principe Felipe (CIPF)
- Publication Year :
- 2018
- Publisher :
- ELSEVIER SCI LTD, 2018.
-
Abstract
- Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited `CTG' repeat expansion in the gene encoding DM Protein Kinase (DMPK). The repeats are transcribed into mRNA, which forms hairpins and binds with high affinity to the Muscleblind-like (MBNL) family of proteins, sequestering them from their normal function. The loss of function of MBNL proteins causes numerous downstream effects, primarily the appearance of nuclear foci, mis-splicing, and ultimately myotonia and other clinical symptoms. Antisense and other RNA-mediated technologies have been applied to target toxic-repeat mRNA transcripts to restore MBNL protein function in DM1 models, such as cells and mice, and in humans. This technique has had promising results in DM1 therapeutics by alleviating pathogenic phenotypes.
Details
- ISSN :
- 13596446
- Database :
- OpenAIRE
- Journal :
- DRUG DISCOVERY TODAY, r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF), instname, r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA, r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF), Centro de Investigación Principe Felipe (CIPF)
- Accession number :
- edsair.dedup.wf.001..0d6174d8b9d5778e3c348114f1049050