title: CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy.
abstract: OBJECTIVE
  Dysferlin is a sarcolemmal protein that plays an important role in membrane repair by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene (DYSF) lead to multiple clinical phenotypes, including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT). Patients with dysferlinopathy also show muscle inflammation, which often leads to a misdiagnosis as inflammatory myopathy. In this study, we examined and analyzed the dyferlinopathy-associated immunological features.
  
  
  METHODS
  Comparative immunohistochemical analysis of inflammatory cell infiltration, and muscle expression of MHC-I and C5b-9 was performed using muscle biopsy samples from 14 patients with dysferlinopathy, 7 patients with polymyositis, and 8 patients with either Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD).
  
  
  RESULTS
  Immunohistochemical analysis revealed positive staining for immune response-related CD4+ cells, macrophages, MHC-I and C5b-9 in dysferlinopathy, which is in a different mode of polymyositis and DMD/BMD.
  
  
  CONCLUSIONS
  These results demonstrated the involvement of immune factors in the pathogenesis of dysferlinopathy.
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Yin
authors.affiliation: Department of Emergency, General Hospital of Chinese People's Armed Police Force 69 Yongding Road, Haidian District, Beijing 100039, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Chen
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Junwei
authors.initials: J
authors.lastname: Niu
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Ban
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Jiexiao
authors.initials: J
authors.lastname: Liu
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Mao
authors.affiliation: Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
authors.forename: Chuanqiang
authors.initials: C
authors.lastname: Pu
mesh_terms: D000293:Adolescent; D000328:Adult; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D015938:Complement Membrane Attack Complex / Q000276:immunology*; D005260:Female; D015395:Histocompatibility Antigens Class I / Q000276:immunology*; D006801:Humans; D007150:Immunohistochemistry; D008264:Macrophages / Q000276:immunology*; D008297:Male; D018482:Muscle, Skeletal / Q000276:immunology / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000276:immunology* / Q000473:pathology; D055815:Young Adult
chemical_list: D015938:Complement Membrane Attack Complex; D015395:Histocompatibility Antigens Class I
keywords: Becker muscular dystrophy; Duchenne muscular dystrophy; dysferlinopathy; immunohistochemical analysis; muscle pathology; polymyositis