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

FEBS Letters

Duclos, Franck³  Merlini, Luciano⁷  Campbell, Kevin P.³  Sunada, Yoshihide³  Moomaw, Carolyn⁶  Slaughter, Clive⁶  Azibi, Kemal¹  Jung, Daniel³  Tomé, Fernando M.S.²  Chaouch, Malika⁴  Kaplan, Jean-Claude⁵  Fardeau, Michel²  Leturcq, France⁵ 

[1] Hopital Bologhine, CHU, Alger-Ouest, Algeria;INSERM 153, 17 rue du Fer à Moulin, 75005 Paris, France;Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA 52242, USA;Hopital Ben-Aknoun, CHU, Alger-Ouest, Algeria;Laboratoire de Biochimie Génétique et INSERM 129, CHU Cochin, Université René Descartes, 75014 Paris, France;Howard Hughes Medical Institute, Biopolymer Facility, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA;Istituto Ortopedico Rizzoli, Bologna, Italy

关键词: Dystrophin-associated glycoprotein;    35 kDa;    γ-Sarcoglycan;    Severe childhood autosomal muscular dystrophy;    Limb-girdle muscular dystrophy;    Sarcoglycan complex;    DGC;    dystrophin-glycoprotein complex;    LGMD;    limb-girdle muscular dystrophy;    SDS-PAGE;    sodium dodecyl sulfate polyacrylamide gel electrophoresis;    ECL;    enhanced chemiluminescence;   

DOI  :  10.1016/0014-5793(96)00056-7

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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, we show that in normal muscle α-, β-, and γ-sarcoglycan constitute a tightly associated sarcolemma complex which can not be disrupted by SDS treatment.

【 授权许可】

Unknown