A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice

Hum Mol Genet. 2002 Feb 1;11(3):263-72. doi: 10.1093/hmg/11.3.263.

Abstract

Mutations in dystrophin cause Duchenne muscular dystrophy (DMD), but absent dystrophin does not invariably cause necrosis in all muscles, life stages and species. Using DNA microarray, we established a molecular signature of dystrophinopathy in the mdx mouse, with evidence that secondary mechanisms are key contributors to pathogenesis. We used variability controls, adequate replicates and stringent analytic tools, including significance analysis of microarrays to estimate and manage false positive rates. In leg muscle, we identified 242 differentially expressed genes, >75% of which have not been previously reported as altered in human or animal dystrophies. Data provide evidence for coordinated activity of numerous components of a chronic inflammatory response, including cytokine and chemokine signaling, leukocyte adhesion and diapedesis, invasive cell type-specific markers, and complement system activation. Selective chemokine upregulation was confirmed by RT-PCR and immunoblot, and may be a key determinant of the nature of the inflammatory response in dystrophic muscle. Up-regulation of secreted phosphoprotein 1 (minopontin, osteopontin) mRNA and protein in dystrophic muscle identified a novel linkage between inflammatory cells and repair processes. Extracellular matrix genes were up-regulated in mdx to levels similar to those in DMD. Since, unlike DMD, mdx exhibits little fibrosis, data suggest that collagen regulation at post-transcriptional stages mediates extensive fibrosis in DMD. Taken together, these data identify a relatively neglected aspect of DMD, suggest new treatment avenues, and highlight the value of genome-wide profiling in study of complex disease processes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chemotactic Factors / metabolism
  • Disease Models, Animal
  • Dystrophin / deficiency*
  • Dystrophin / genetics
  • Dystrophin / physiology
  • Extracellular Matrix / metabolism
  • Inflammation / physiopathology
  • Mast Cells / metabolism
  • Mice
  • Mice, Inbred mdx
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophy, Duchenne / etiology
  • Muscular Dystrophy, Duchenne / genetics
  • Oligonucleotide Array Sequence Analysis
  • Regeneration
  • Reverse Transcriptase Polymerase Chain Reaction
  • Up-Regulation

Substances

  • Chemotactic Factors
  • Dystrophin