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

Daniel Jung, France Leturcq, Yoshihide Sunada, Franck Duclos, Fernando M.S. Tomé, Carolyn Moomaw, Luciano Merlini, Kemal Azibi, Malika Chaouch, Clive A. Slaughter, Michel Fardeau, Jean Claude Kaplan, Kevin P. Campbell

Research output: Contribution to journalArticle

52 Scopus citations

Abstract

We have partially sequenced rabbit skeletal muscle γ-sarcoglycan an integral component of the dystrophin-glycoprotein complex. Specific antibodies were produced against a γ-sarcoglycan peptide and used to examine the expression of γ-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 γ-sarcoglycan is completely absent and α- and β-sarcoglycan are greatly reduced in abundance, whereas other components of the DGC are preserved. In addition, ne show that in normal muscle α-, β-, and γ-sarcoglycan constitute a tightly associated sarcolemma complex which can not be disrupted by SDS treatment.

Original languageEnglish (US)
Pages (from-to)15-20
Number of pages6
JournalFEBS Letters
Volume381
Issue number1-2
DOIs
StatePublished - Feb 26 1996
Externally publishedYes

Keywords

  • 35 kDa
  • Dystrophin-associated glycoprotein
  • Limb-girdle muscular dystrophy
  • Sarcoglycan complex
  • Severe childhood autosomal muscular dystrophy
  • γ-Sarcoglycan

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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  • Cite this

    Jung, D., Leturcq, F., Sunada, Y., Duclos, F., Tomé, F. M. S., Moomaw, C., Merlini, L., Azibi, K., Chaouch, M., Slaughter, C. A., Fardeau, M., Kaplan, J. C., & Campbell, K. P. (1996). Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Letters, 381(1-2), 15-20. https://doi.org/10.1016/0014-5793(96)00056-7