title: X-linked vacuolated myopathy: membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S-protein.
abstract: We have studied the expression of S-protein on the muscle from patients with X-linked vacuolated myopathy [characterized by the deposition of the complement C5b-9 membrane attack complex (MAC) over abnormal muscle fibers] and controls by immunocytochemistry and immunoblotting. No expression was detected on muscle from controls and patients with X-linked vacuolated myopathy. These findings suggest that S-protein does not render the MAC inactive in X-linked vacuolated myopathy. This situation may be due to the fact that the pathways of MAC activation and the expression of S-protein in X-linked vacuolated myopathy are different from the ones observed in ischemic and/or necrotic, or immune diseases. These results emphasize the role of the membrane complement regulatory proteins (i.e., CD59) in X-linked vacuolated myopathy.
authors.affiliation: Laboratory of Cellular and Molecular Physiopathology and Pharmacology, CJF Inserm 96-01, Hopital GR Laënnec, Nantes, France.
authors.forename: J P
authors.initials: JP
authors.lastname: Louboutin
authors.forename: J M
authors.initials: JM
authors.lastname: Navenot
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: K
authors.initials: K
authors.lastname: Rouger
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D000328:Adult; D000911:Antibodies, Monoclonal; D001706:Biopsy; D015153:Blotting, Western; D051152:Clusterin; D003169:Complement Inactivator Proteins / Q000032:analysis / Q000276:immunology; D015938:Complement Membrane Attack Complex / Q000032:analysis*; D005455:Fluorescent Antibody Technique; D008040:Genetic Linkage; D006023:Glycoproteins / Q000032:analysis / Q000276:immunology; D006801:Humans; D008562:Membrane Glycoproteins / Q000032:analysis* / Q000276:immunology; D008875:Middle Aged; D018832:Molecular Chaperones; D018485:Muscle Fibers, Skeletal / Q000737:chemistry* / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D014617:Vacuoles / Q000473:pathology; D014960:X Chromosome; D019096:Vitronectin
chemical_list: D000911:Antibodies, Monoclonal; D051152:Clusterin; D003169:Complement Inactivator Proteins; D015938:Complement Membrane Attack Complex; D006023:Glycoproteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D019096:Vitronectin; C495242:CLU protein, human