Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling

J Neuropathol Exp Neurol. 2012 Oct;71(10):894-906. doi: 10.1097/NEN.0b013e31826c6f7b.

Abstract

Ullrich congenital muscular dystrophy (UCMD) is a common form of muscular dystrophy associated with defects in collagen VI. It is characterized by loss of individual muscle fibers and muscle mass and proliferation of connective and adipose tissues. We sought to investigate the mechanisms by which collagen VI regulates muscle cell survival, size, and regeneration and, in particular, the potential role of the ubiquitin-proteasome and calpain-proteolytic systems. We studied muscle biopsies of UCMD (n = 6), other myopathy (n = 12), and control patients (n = 10) and found reduced expression of atrogin-1, MURF1, and calpain-3 mRNAs in UCMD cases. Downregulation of calpain-3 was associated with changes in the nuclear immunolocalization of nuclear factor-κB. We also observed increased expression versus controls of regeneration markers at the protein and RNA levels. Satellite cell numbers did not differ in collagen VI-deficient muscle versus normal nonregenerating muscle, indicating that collagen VI does not play a key role in the maintenance of the satellite cell pool. Our results indicate that alterations in calpain-3 and nuclear factor-κB signaling pathways may contribute to muscle mass loss in UCMD muscle, whereas atrogin-1 and MURF1 are not likely to play a major role.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calpain / physiology*
  • Child
  • Child, Preschool
  • Collagen Type VI / deficiency*
  • Female
  • Humans
  • Male
  • Muscle Fibers, Skeletal / pathology
  • Muscle Fibers, Skeletal / physiology*
  • Muscle Proteins / physiology*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiology
  • Muscular Atrophy / metabolism*
  • Muscular Atrophy / pathology
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology
  • NF-kappa B / physiology*
  • Regeneration / physiology*
  • Signal Transduction / physiology*
  • Young Adult

Substances

  • Collagen Type VI
  • Muscle Proteins
  • NF-kappa B
  • CAPN3 protein, human
  • Calpain