Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

FEBS Lett. 1996 Feb 26;381(1-2):15-20. doi: 10.1016/0014-5793(96)00056-7.

Abstract

We have partially sequenced rabbit skeletal muscle gamma-sarcoglycan, an integral component of the dystrophin-glycoprotein complex. Specific antibodies were produced against a gamma-sarcoglycan peptide and used to examine the expression of gamma-sarcoglycan in skeletal muscle of patients with severe childhood autosomal muscular dystrophy linked to chromosome 13q12 (SCARMD). We show by immunofluorescence and Western blotting that in skeletal muscle from these patients gamma-sarcoglycan is completely absent and alpha- and beta-sarcoglycan are greatly reduced in abundance, whereas other components of the DGC are preserved. In addition, we show that in normal muscle alpha-, beta-, and gamma-sarcoglycan constitute a tightly associated sarcolemma complex which cannot be disrupted by SDS treatment.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13
  • Cytoskeletal Proteins*
  • Dystrophin / genetics
  • Genetic Linkage
  • Humans
  • Membrane Glycoproteins / analysis
  • Membrane Glycoproteins / deficiency*
  • Membrane Glycoproteins / genetics*
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / genetics*
  • Organ Specificity
  • Rabbits
  • Reference Values
  • Sarcoglycans
  • Sarcolemma / chemistry
  • Sarcolemma / metabolism

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Glycoproteins
  • Sarcoglycans