[Myotonic Dystrophy: Advances in Translational Research]

Brain Nerve. 2017 Jan;69(1):61-69. doi: 10.11477/mf.1416200637.
[Article in Japanese]

Abstract

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults, which is caused by unstable genomic expansions of CTG or CCTG repeats. Mutant RNA transcripts containing the expanded repeats cause toxic gain-of-function by perturbing splicing factors in the nucleus, resulting in misregulation of alternative pre-mRNA splicing. Recent advances in basic and translational research and pharmacological approaches have provided clues for therapeutic intervention in DM. Herein, we review the RNA-dominant mechanism of DM and therapeutic approaches for targeting the toxic RNA.

Publication types

  • Review

MeSH terms

  • Alternative Splicing
  • Animals
  • Disease Models, Animal
  • Humans
  • Myotonic Dystrophy* / drug therapy
  • Myotonic Dystrophy* / genetics
  • Myotonic Dystrophy* / metabolism
  • Small Molecule Libraries / therapeutic use
  • Translational Research, Biomedical

Substances

  • Small Molecule Libraries