Systemic investigation of bone and muscle abnormalities in dystrophin/utrophin double knockout mice during postnatal development and the mechanisms

Hum Mol Genet. 2019 May 15;28(10):1738-1751. doi: 10.1093/hmg/ddz012.

Abstract

The dystrophin-/-/utrophin-/-/ double knockout (dKO-Hom) mouse is a murine model of human Duchenne muscular dystrophy. This study investigated the bone and muscle abnormalities of dKO-Hom mouse and mechanisms. We collected bone and skeletal muscle samples from control mice and three muscular dystrophic mouse models at different ages and performed micro-computer tomography and histological analyses of both bone and skeletal muscle tissues. Serum receptor activator of nuclear factor kappa-Β ligand (RANKL) and sclerostin (SOST) levels, osteoclastogenesis and serum proteomics were also analyzed. Our results indicated that dKO-Hom mice developed skeletal muscle histopathologies by 5 days of age, whereas bone abnormalities developed at 4 weeks of age. Furthermore, our results indicated that the numbers of osteoblasts and osteoclasts were decreased in the proximal tibia and spine trabecular bone of dKO-Hom mice compared to wild-type (WT) mice, which correlated with a significant reduction in serum RANKL levels. The number of tibia cortical osteocytes also decreased, whereas serum SOST levels increased significantly in dKO-Hom mice than WT mice. Osteoblastic number was significantly lower, but osteoclast number increased, in the spine L6 of dKO-Hom mice than WT mice at 6 weeks of age, resulting in a decrease in bone formation and an increase in bone resorption. Serum proteomics results revealed abnormal proteome profiles in dKO-Hom mice compared to control mice. In conclusion, our study elucidated the timing of development of bone and muscle abnormalities. The bone abnormalities in dKO-Hom mice are correlated with lower serum RANKL and higher SOST levels that resulted in dysregulation of osteogenesis and osteoclastogenesis and bone loss.

Publication types

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

MeSH terms

  • Animals
  • Bone Development / genetics*
  • Bone and Bones / abnormalities
  • Bone and Bones / metabolism
  • Disease Models, Animal
  • Dystrophin / genetics*
  • Humans
  • Mice
  • Mice, Knockout
  • Muscle, Skeletal / abnormalities
  • Muscle, Skeletal / growth & development
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology
  • NF-kappa B / genetics
  • Osteoclasts / metabolism
  • Osteoclasts / pathology
  • Utrophin / genetics*

Substances

  • Dystrophin
  • NF-kappa B
  • Utrophin