Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle

Neuromuscul Disord. 2003 Jan;13(1):21-31. doi: 10.1016/s0960-8966(02)00191-8.

Abstract

A lack of effective treatments for Duchenne muscular dystrophy, a fatal X-linked myopathy, has focused attention on the possibility of gene therapy. The aim of the gene therapy approach is the restoration of the dystrophin associated complex of proteins, one member of which is neuronal nitric oxide synthase, an important enzyme in signal transduction. Transgenic mdx mice and plasmid gene transfer of both human and murine recombinant dystrophins was used to assess whether nNOS could be restored to the sarcolemma following dystrophin gene transfer at a variety of levels of expression. Murine revertant fibres and human patients with different dystrophin deletions were used to assess the relationship between exon deletion and loss of neuronal nitric oxide synthase localization to the sarcolemma. We demonstrate that the domain encoded by exons 45-48 is required for localization of neuronal nitric oxide synthase to the sarcolemma. On the basis of these observations we suggest that neuronal nitric oxide synthase is a useful marker for complete restoration of the dystrophin associated complex and should be used as one of the criteria for selecting the recombinant molecule to be used for gene therapy in Duchenne muscular dystrophy.

Publication types

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

MeSH terms

  • Adult
  • Animals
  • Biomarkers / analysis
  • Calcium-Binding Proteins
  • Cytoskeletal Proteins / metabolism
  • Dystrophin / metabolism*
  • Exons
  • Gene Transfer Techniques
  • Humans
  • Immunohistochemistry / methods
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Mice, Transgenic
  • Muscle Proteins / metabolism
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Animal / enzymology*
  • Muscular Dystrophy, Duchenne / enzymology
  • Muscular Dystrophy, Duchenne / metabolism
  • Muscular Dystrophy, Duchenne / pathology
  • Nitric Oxide Synthase / metabolism*
  • Nitric Oxide Synthase Type I
  • Peptide Fragments / metabolism
  • Sarcolemma / enzymology
  • Utrophin

Substances

  • Biomarkers
  • Calcium-Binding Proteins
  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Muscle Proteins
  • Peptide Fragments
  • Utrn protein, mouse
  • Utrophin
  • syntrophin alpha1
  • NOS1 protein, human
  • Nitric Oxide Synthase
  • Nitric Oxide Synthase Type I
  • Nos1 protein, mouse