Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies

Neuromuscul Disord. 1999 Jan;9(1):28-33. doi: 10.1016/s0960-8966(98)00093-5.


We evaluated transforming growth factor-beta1 (TGF-beta1) expression in the muscle of four laminin alpha2-negative, four laminin alpha2-positive and seven partial laminin alpha2-deficient congenital muscular dystrophy (CMD) patients, and compared it to Duchenne muscular dystrophy (DMD) patients and controls. TGF-beta1 mRNA levels in skeletal muscle from laminin alpha2-negative and laminin alpha2-positive CMD patients were significantly greater than in controls (P < 0.05 and P < 0.005, respectively), while in partial laminin alpha2-deficient muscular dystrophy patients the amount was not significantly higher than in controls (P > 0.1). The TGF-beta1 values were lower than those found in DMD, although the extent of fibrosis was greater in CMD than in DMD and controls. Our findings suggest that TGF-beta1 is involved in CMD muscle fibrosis, but differently from what we observed in DMD muscles as it seems not to be the major player in connective tissue proliferation.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Connective Tissue / metabolism
  • Connective Tissue / pathology
  • Female
  • Fibrosis
  • Humans
  • Immunohistochemistry
  • Infant
  • Laminin / biosynthesis
  • Laminin / deficiency
  • Male
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology*
  • RNA, Messenger / biosynthesis
  • Transforming Growth Factor beta / genetics
  • Transforming Growth Factor beta / metabolism*


  • Laminin
  • RNA, Messenger
  • Transforming Growth Factor beta
  • laminin alpha 2