[Myotonic dystrophy]

Rinsho Shinkeigaku. 2013;53(11):1109-11. doi: 10.5692/clinicalneurol.53.1109.
[Article in Japanese]

Abstract

No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia. In other experiments, we also identified small molecule compounds that correct aberrant splicing of Clcn1 gene. Manumycin A corrected aberrant splicing of Clcn1 in mouse model.

Publication types

  • Review

MeSH terms

  • Animals
  • Chloride Channels / administration & dosage
  • Chloride Channels / genetics
  • Chloride Channels / metabolism
  • Disease Models, Animal
  • Gene Transfer Techniques
  • Genetic Therapy / methods
  • Humans
  • Liposomes
  • Mice
  • Molecular Targeted Therapy
  • Muscle, Skeletal
  • Myotonic Dystrophy* / genetics
  • Myotonic Dystrophy* / therapy
  • Oligonucleotides, Antisense / administration & dosage
  • Polyenes / pharmacology
  • Polyenes / therapeutic use
  • Polyunsaturated Alkamides / pharmacology
  • Polyunsaturated Alkamides / therapeutic use
  • RNA Splicing / drug effects

Substances

  • CLC-1 channel
  • Chloride Channels
  • Liposomes
  • Oligonucleotides, Antisense
  • Polyenes
  • Polyunsaturated Alkamides
  • manumycin