Yin Xi, Wang Qian, Chen Ting, Niu Junwei, Ban Rui, Liu Jiexiao, Mao Yanling, Pu Chuanqiang
Department of Neurology, Chinese PLA General Hospital 28 Fuxing Road, Haidian District, Beijing 100853, China.
Department of Emergency, General Hospital of Chinese People's Armed Police Force 69 Yongding Road, Haidian District, Beijing 100039, China.
Int J Clin Exp Pathol. 2015 Mar 1;8(3):3069-75. eCollection 2015.
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.
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).
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.
These results demonstrated the involvement of immune factors in the pathogenesis of dysferlinopathy.
肌膜蛋白是一种肌膜蛋白，通过调节囊泡与肌膜的融合在膜修复中发挥重要作用。肌膜蛋白基因（DYSF）突变会导致多种临床表型，包括宫下肌病（MM）、2B型肢带型肌营养不良（LGMD 2B）和胫前肌起病的远端肌病（DMAT）。肌膜蛋白病患者还表现出肌肉炎症，这常常导致误诊为炎性肌病。在本研究中，我们检测并分析了与肌膜蛋白病相关的免疫特征。
使用来自14例肌膜蛋白病患者、7例多发性肌炎患者以及8例杜氏肌营养不良或贝克肌营养不良（DMD/BMD）患者的肌肉活检样本，对炎症细胞浸润以及MHC-I和C5b-9的肌肉表达进行比较免疫组化分析。
免疫组化分析显示，肌膜蛋白病中免疫反应相关的CD4+细胞、巨噬细胞、MHC-I和C5b-9呈阳性染色，这与多发性肌炎和DMD/BMD的模式不同。
这些结果表明免疫因素参与了肌膜蛋白病的发病机制。
