Role of Toll-like receptors in the pathogenesis of dystrophin-deficient skeletal and heart muscle

Hum Mol Genet. 2014 May 15;23(10):2604-17. doi: 10.1093/hmg/ddt656. Epub 2013 Dec 23.

Abstract

Although the cause of Duchenne muscular dystrophy (DMD) is known, the specific factors that initiate and perpetuate disease progression are not well understood. We hypothesized that leaky dystrophin-deficient skeletal muscle releases endogenous danger signals (TLR ligands), which bind to Toll-like receptors (TLRs) on muscle and immune cells and activate downstream processes that facilitate degeneration and regeneration in dystrophic skeletal muscle. Here, we demonstrate that dystrophin-deficient mouse muscle cells show increased expression of several cell-surface and endosomal TLRs. In vitro screening identified ssRNA as a relevant endogenous TLR7 ligand. TLR7 activation led to myd88-dependent production of pro-inflammatory cytokines in dystrophin-deficient muscle cells, and cause significant degeneration/regeneration in vivo in mdx mouse muscle. Also, knockout of the central TLR adaptor protein, myd88 in mdx mice significantly improved skeletal and cardiac muscle function. Likewise, proof-of-concept experiments showed that treating young mdx mice with a TLR7/9 antagonist significantly reduced skeletal muscle inflammation and increased muscle force, suggesting that blocking this pathway may have therapeutic potential for DMD.

Publication types

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

MeSH terms

  • Animals
  • Cell Proliferation
  • Cells, Cultured
  • Cytokines / metabolism
  • Dystrophin / deficiency
  • Female
  • Humans
  • Male
  • Membrane Glycoproteins / agonists
  • Membrane Glycoproteins / physiology*
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Mice, Knockout
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Duchenne / metabolism
  • Muscular Dystrophy, Duchenne / pathology
  • Myeloid Differentiation Factor 88 / metabolism*
  • Myoblasts, Skeletal / immunology
  • Myoblasts, Skeletal / metabolism
  • Myocardium / metabolism*
  • Myocardium / pathology
  • Phenotype
  • Toll-Like Receptor 7 / agonists
  • Toll-Like Receptor 7 / physiology*
  • Toll-Like Receptor 9 / metabolism*

Substances

  • Cytokines
  • Dystrophin
  • Membrane Glycoproteins
  • Myd88 protein, mouse
  • Myeloid Differentiation Factor 88
  • Tlr7 protein, mouse
  • Tlr9 protein, mouse
  • Toll-Like Receptor 7
  • Toll-Like Receptor 9