A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice

J Neurol Sci. 1994 Mar;122(1):44-56. doi: 10.1016/0022-510x(94)90050-7.

Abstract

Dystrophin deficiency has been shown to be the underlying cause of Duchenne muscular dystrophy. Although dystrophin-deficient homologous animal models have been identified (dog, mouse, and cat), the clinical expression of the biochemical defect is species-specific. Thus, while the genetics and biochemistry of Duchenne dystrophy is understood, the pathophysiological cascade leading to muscle weakness in only humans and dogs remains obscure. To begin to dissect the pathophysiology at the histological level, we undertook a systematic study of mast cells in normal and dystrophin-deficient muscle. Mast cells have been implicated in the development of fibrosis in other disorders, and progressive fibrosis has been hypothesized to mediate the failure of muscle regeneration in human and dog dystrophin deficiency. Our results show a strong correlation between mast cell content and localization, and the clinico-histopathological progression in humans, dogs and mice. The mast cell increases were disease specific: other dystrophic myopathies with normal dystrophin generally did not show substantial increases in mast cell content or degranulation. Our data suggest that mast cell accumulation and degranulation may cause the grouped necrosis characteristic of dystrophin deficiency in all species.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Avidin / analogs & derivatives
  • Child
  • Child, Preschool
  • Chymases
  • Dogs
  • Dystrophin / deficiency*
  • Female
  • Fluorescein-5-isothiocyanate / analogs & derivatives
  • Histocytochemistry
  • Humans
  • Infant
  • Infant, Newborn
  • Lectins
  • Mast Cells / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Neurologic Mutants
  • Muscles / pathology*
  • Muscular Dystrophies / pathology*
  • Muscular Dystrophy, Animal / pathology*
  • Necrosis
  • Plant Lectins*
  • Pregnancy
  • Serine Endopeptidases

Substances

  • Dystrophin
  • Lectins
  • Plant Lectins
  • dolichos biflorus agglutinin
  • fluorescein isothiocyante avidin
  • Avidin
  • Serine Endopeptidases
  • Chymases
  • Fluorescein-5-isothiocyanate