Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

Nat Genet. 1999 Nov;23(3):338-42. doi: 10.1038/15519.

Abstract

Mutations in the dystrophin gene (DMD) and in genes encoding several dystrophin-associated proteins result in Duchenne and other forms of muscular dystrophy. alpha-Dystroglycan (Dg) binds to laminins in the basement membrane surrounding each myofibre and docks with beta-Dg, a transmembrane protein, which in turn interacts with dystrophin or utrophin in the subplasmalemmal cytoskeleton. alpha- and beta-Dgs are thought to form the functional core of a larger complex of proteins extending from the basement membrane to the intracellular cytoskeleton, which serves as a superstructure necessary for sarcolemmal integrity. Dgs have also been implicated in the formation of synaptic densities of acetylcholine receptors (AChRs) on skeletal muscle. Here we report that chimaeric mice generated with ES cells targeted for both Dg alleles have skeletal muscles essentially devoid of Dgs and develop a progressive muscle pathology with changes emblematic of muscular dystrophies in humans. In addition, many neuromuscular junctions are disrupted in these mice. The ultrastructure of basement membranes and the deposition of laminin within them, however, appears unaffected in Dg-deficient muscles. We conclude that Dgs are necessary for myofibre survival and synapse differentiation or stability, but not for the formation of the muscle basement membrane, and that Dgs may have more than a purely structural function in maintaining muscle integrity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Basement Membrane / metabolism
  • Basement Membrane / ultrastructure
  • Chimera / genetics*
  • Chimera / physiology
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Cytoskeleton / metabolism
  • Cytoskeleton / ultrastructure
  • Dystroglycans
  • Dystrophin / metabolism
  • Hindlimb / innervation
  • Hindlimb / metabolism
  • Hindlimb / pathology
  • Humans
  • Laminin / metabolism
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism*
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Transgenic
  • Microscopy, Electron
  • Muscle, Skeletal / innervation*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / ultrastructure
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / pathology
  • Mutation / genetics
  • Neuromuscular Junction / metabolism
  • Neuromuscular Junction / pathology*
  • Neuromuscular Junction / ultrastructure
  • Receptor Aggregation
  • Receptors, Cholinergic / metabolism
  • Sarcoglycans
  • Stem Cells / metabolism
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Laminin
  • Membrane Glycoproteins
  • Membrane Proteins
  • Receptors, Cholinergic
  • Sarcoglycans
  • Utrn protein, mouse
  • Utrophin
  • Dystroglycans