Enhanced expression of the alpha 7 beta 1 integrin reduces muscular dystrophy and restores viability in dystrophic mice

J Cell Biol. 2001 Mar 19;152(6):1207-18. doi: 10.1083/jcb.152.6.1207.

Abstract

Muscle fibers attach to laminin in the basal lamina using two distinct mechanisms: the dystrophin glycoprotein complex and the alpha 7 beta 1 integrin. Defects in these linkage systems result in Duchenne muscular dystrophy (DMD), alpha 2 laminin congenital muscular dystrophy, sarcoglycan-related muscular dystrophy, and alpha 7 integrin congenital muscular dystrophy. Therefore, the molecular continuity between the extracellular matrix and cell cytoskeleton is essential for the structural and functional integrity of skeletal muscle. To test whether the alpha 7 beta 1 integrin can compensate for the absence of dystrophin, we expressed the rat alpha 7 chain in mdx/utr(-/-) mice that lack both dystrophin and utrophin. These mice develop a severe muscular dystrophy highly akin to that in DMD, and they also die prematurely. Using the muscle creatine kinase promoter, expression of the alpha 7BX2 integrin chain was increased 2.0-2.3-fold in mdx/utr(-/-) mice. Concomitant with the increase in the alpha 7 chain, its heterodimeric partner, beta 1D, was also increased in the transgenic animals. Transgenic expression of the alpha 7BX2 chain in the mdx/utr(-/-) mice extended their longevity by threefold, reduced kyphosis and the development of muscle disease, and maintained mobility and the structure of the neuromuscular junction. Thus, bolstering alpha 7 beta 1 integrin-mediated association of muscle cells with the extracellular matrix alleviates many of the symptoms of disease observed in mdx/utr(-/-) mice and compensates for the absence of the dystrophin- and utrophin-mediated linkage systems. This suggests that enhanced expression of the alpha 7 beta 1 integrin may provide a novel approach to treat DMD and other muscle diseases that arise due to defects in the dystrophin glycoprotein complex. A video that contrasts kyphosis, gait, joint contractures, and mobility in mdx/utr(-/-) and alpha 7BX2-mdx/utr(-/-) mice can be accessed at http://www.jcb.org/cgi/content/full/152/6/1207.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Blotting, Western
  • Body Weight
  • Contracture / physiopathology
  • Creatine Kinase / genetics
  • Creatine Kinase, MM Form
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism
  • Dystrophin / genetics
  • Dystrophin / metabolism
  • Female
  • Hindlimb
  • Humans
  • Integrins / genetics
  • Integrins / metabolism*
  • Isoenzymes / genetics
  • Joints
  • Kyphosis
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred mdx
  • Mice, Transgenic
  • Microscopy, Fluorescence
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / pathology
  • Muscular Dystrophy, Animal / physiopathology
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / pathology
  • Muscular Dystrophy, Duchenne / physiopathology*
  • Neuromuscular Junction / ultrastructure
  • Promoter Regions, Genetic*
  • Rats
  • Receptors, Cholinergic / metabolism
  • Receptors, Cholinergic / ultrastructure
  • Survival Rate
  • Transgenes
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Integrins
  • Isoenzymes
  • Membrane Proteins
  • Receptors, Cholinergic
  • Utrn protein, mouse
  • Utrophin
  • Creatine Kinase
  • Creatine Kinase, MM Form
  • integrin alpha7beta1