Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.
Muscle inflammation is characteristic of inflammatory myopathies but also occurs in muscular dystrophy with lack of the sarcolemmal protein dysferlin. We quantified inflammatory cells and major histocompatibility complex (MHC) expression in muscle from 10 patients with dysferlinopathy. Infiltrating cells were always present although numbers varied considerably; macrophages were more common than T cells, T cytotoxicity was absent, and MHC class I was overexpressed on muscle fibers. These findings differ from polymyositis (PM) but are closely similar to those in SJL/J mice (which lack dysferlin) and emphasize the relationship between absence of dysferlin and immune system abnormalities in muscle.
D000293:Adolescent; D000328:Adult; D002465:Cell Movement / Q000276:immunology; D015938:Complement Membrane Attack Complex / Q000378:metabolism; D000073939:Dysferlin; D015395:Histocompatibility Antigens Class I / Q000096:biosynthesis*; D006801:Humans; D008565:Membrane Proteins / Q000096:biosynthesis; D008875:Middle Aged; D009124:Muscle Proteins / Q000096:biosynthesis / Q000172:deficiency* / Q000502:physiology; D018482:Muscle, Skeletal / Q000276:immunology* / Q000378:metabolism / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000276:immunology* / Q000473:pathology*; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000276:immunology / Q000473:pathology; D039102:Poly(A)-Binding Proteins; D017285:Polymyositis / Q000235:genetics / Q000276:immunology / Q000473:pathology; D011506:Proteins; D016601:RNA-Binding Proteins / Q000096:biosynthesis; D000074019:T-Cell Intracellular Antigen-1; D013602:T-Lymphocytes, Cytotoxic / Q000378:metabolism / Q000473:pathology; D015854:Up-Regulation / Q000235:genetics / Q000276:immunology*
D015938:Complement Membrane Attack Complex; C114839:DYSF protein, human; D000073939:Dysferlin; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D009124:Muscle Proteins; D039102:Poly(A)-Binding Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; D000074019:T-Cell Intracellular Antigen-1; C071558:TIA1 protein, human