Cell-penetrating peptide-conjugated antisense oligonucleotides restore systemic muscle and cardiac dystrophin expression and function

Hum Mol Genet. 2008 Dec 15;17(24):3909-18. doi: 10.1093/hmg/ddn293. Epub 2008 Sep 10.

Abstract

Antisense oligonucleotides (AOs) have the potential to induce functional dystrophin protein expression via exon skipping by restoring in-frame transcripts in the majority of patients suffering from Duchenne muscular dystrophy (DMD). AOs of morpholino phosphoroamidate (PMO) and 2'-O-methyl phosphorothioate RNA (2'Ome RNA) chemistry have been shown to restore dystrophin expression in skeletal muscle but not in heart, following high-dose systemic delivery in murine models of muscular dystrophy (mdx). Exploiting the cell transduction properties of two basic arginine-rich cell penetrating peptides, we demonstrate widespread systemic correction of dystrophin expression in body-wide muscles and cardiac tissue in adult dystrophic mdx mice, with a single low-dose injection of peptide-conjugated PMO AO. This approach was sufficient to restore uniform, high-level dystrophin protein expression in peripheral muscle and cardiac tissue, with robust sarcolemmal relocalization of the dystrophin-associated protein complex and functional improvement in muscle. Peptide-conjugated AOs therefore have significant potential for systemic correction of the DMD phenotype.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Membrane Permeability / drug effects
  • Cell Membrane Permeability / genetics*
  • Dose-Response Relationship, Drug
  • Dystrophin / biosynthesis*
  • Dystrophin / genetics*
  • Dystrophin / physiology
  • Gene Expression Regulation / drug effects
  • Gene Expression Regulation / physiology
  • Heart Injuries / drug therapy*
  • Heart Injuries / metabolism
  • Heart Injuries / physiopathology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Morpholines / pharmacokinetics
  • Morpholines / therapeutic use
  • Morpholinos
  • Muscle, Skeletal / drug effects*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / physiology*
  • Muscular Dystrophy, Animal / drug therapy
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / metabolism
  • Oligonucleotides, Antisense / chemistry
  • Oligonucleotides, Antisense / genetics*
  • Oligonucleotides, Antisense / pharmacokinetics
  • Peptides / genetics
  • Peptides / pharmacokinetics
  • Peptides / therapeutic use*

Substances

  • Dystrophin
  • Morpholines
  • Morpholinos
  • Oligonucleotides, Antisense
  • Peptides