Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

J Cell Biol. 1998 Sep 21;142(6):1461-71. doi: 10.1083/jcb.142.6.1461.

Abstract

Limb-girdle muscular dystrophy type 2D (LGMD 2D) is an autosomal recessive disorder caused by mutations in the alpha-sarcoglycan gene. To determine how alpha-sarcoglycan deficiency leads to muscle fiber degeneration, we generated and analyzed alpha-sarcoglycan- deficient mice. Sgca-null mice developed progressive muscular dystrophy and, in contrast to other animal models for muscular dystrophy, showed ongoing muscle necrosis with age, a hallmark of the human disease. Sgca-null mice also revealed loss of sarcolemmal integrity, elevated serum levels of muscle enzymes, increased muscle masses, and changes in the generation of absolute force. Molecular analysis of Sgca-null mice demonstrated that the absence of alpha-sarcoglycan resulted in the complete loss of the sarcoglycan complex, sarcospan, and a disruption of alpha-dystroglycan association with membranes. In contrast, no change in the expression of epsilon-sarcoglycan (alpha-sarcoglycan homologue) was observed. Recombinant alpha-sarcoglycan adenovirus injection into Sgca-deficient muscles restored the sarcoglycan complex and sarcospan to the membrane. We propose that the sarcoglycan-sarcospan complex is requisite for stable association of alpha-dystroglycan with the sarcolemma. The Sgca-deficient mice will be a valuable model for elucidating the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development of therapeutic strategies for this disease.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Carrier Proteins / biosynthesis
  • Carrier Proteins / physiology
  • Cytoskeletal Proteins / deficiency*
  • Cytoskeletal Proteins / genetics
  • DNA, Complementary
  • Disease Progression
  • Dystrophin / metabolism
  • Gene Transfer Techniques
  • Glycoproteins / metabolism
  • Membrane Glycoproteins / deficiency*
  • Membrane Glycoproteins / genetics
  • Membrane Proteins / biosynthesis
  • Membrane Proteins / physiology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Molecular Sequence Data
  • Muscle Contraction
  • Muscular Dystrophy, Animal / etiology*
  • Muscular Dystrophy, Animal / physiopathology
  • Neoplasm Proteins*
  • Sarcoglycans
  • Sarcolemma / metabolism

Substances

  • Carrier Proteins
  • Cytoskeletal Proteins
  • DNA, Complementary
  • Dystrophin
  • Glycoproteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Neoplasm Proteins
  • Sarcoglycans
  • Sspn protein, mouse

Associated data

  • GENBANK/AF064081