Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy

Biomed Res Int. 2015:2015:635792. doi: 10.1155/2015/635792. Epub 2015 Aug 24.

Abstract

In skeletal muscle, dystroglycan (DG) is the central component of the dystrophin-glycoprotein complex (DGC), a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC. Mutations within the DG gene (DAG1) have been recently associated with two forms of muscular dystrophy, one displaying a milder and one a more severe phenotype. This review focuses specifically on the animal (murine and others) model systems that have been developed with the aim of directly engineering DAG1 in order to study the DG function in skeletal muscle as well as in other tissues. In the last years, conditional animal models overcoming the embryonic lethality of the DG knock-out in mouse have been generated and helped clarifying the crucial role of DG in skeletal muscle, while an increasing number of studies on knock-in mice are aimed at understanding the contribution of single amino acids to the stability of DG and to the possible development of muscular dystrophy.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Dystroglycans / genetics*
  • Dystroglycans / metabolism
  • Dystrophin / genetics
  • Genetic Engineering
  • Humans
  • Mice
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophy, Animal / genetics*
  • Muscular Dystrophy, Animal / pathology

Substances

  • DAG1 protein, human
  • Dystrophin
  • Dystroglycans