Myotonic dystrophy: approach to therapy

Curr Opin Genet Dev. 2017 Jun;44:135-140. doi: 10.1016/j.gde.2017.03.007. Epub 2017 Apr 1.


Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetramer repeat in CNBP. In both cases the DM mutations lead to expression of dominant-acting RNAs. Studies of RNA toxicity have now revealed novel mechanisms and new therapeutic targets. Preclinical data have suggested that RNA dominance is responsive to therapeutic intervention and that DM therapy can be approached at several different levels. Here we review recent efforts to alleviate RNA toxicity in DM.

Publication types

  • Review

MeSH terms

  • Gene Expression Regulation / genetics
  • Genetic Therapy
  • Humans
  • Mutation
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology
  • Myotonic Dystrophy / therapy
  • Myotonin-Protein Kinase / genetics*
  • RNA, Antisense / genetics*
  • RNA, Antisense / therapeutic use
  • RNA-Binding Proteins / genetics*
  • Trinucleotide Repeat Expansion / genetics


  • CNBP protein, human
  • DMPK protein, human
  • RNA, Antisense
  • RNA-Binding Proteins
  • Myotonin-Protein Kinase