Duchenne型肌营养不良症患儿肌膜抗肌萎缩蛋白-糖蛋白复合物表达研究  

Expression of dystrophin-glycoprotein complex at the skeletal muscle sarcolemma in Duchenne muscular dystrophy

作　　者：赵蕾[1] 胡超平[1] 王艺[1] 周水珍[1] 施亿赟[1] 李西华[1] 

机构地区：[1]复旦大学附属儿科医院神经科,上海201102

出　　处：《中国现代神经疾病杂志》2015年第6期448-452,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：上海市卫生局科研计划项目(项目编号:210263)~~

摘　　要：研究背景离心运动或高张力运动可以损伤骨骼肌结构,使抗肌萎缩蛋白(dystrophin)缺失,并继发性引起抗肌萎缩蛋白-糖蛋白复合物(DGC)缺乏,表明dystrophin蛋白表达下降是离心运动对骨骼肌损伤的关键标记之一。DMD基因突变致dystrophin蛋白缺失继而导致Duchennne型肌营养不良症,表明Duchenne型肌营养不良症患儿自出生起即处于骨骼肌离心运动所承载的高张力力量传递通路的自然状态。本研究探讨Duchenne型肌营养不良症患儿骨骼肌功能进行性下降与DGC复合物表达水平之间的关系。方法共197例9天至12岁Duchennne型肌营养不良症患儿,采用免疫荧光染色观察肱二头肌肌膜DGC复合物中的肌营养不良蛋白聚糖(α-和β-DG),肌聚糖蛋白(α-、β-、γ-和δ-SG),互生蛋白(syntrophin)表达变化。结果各年龄段Duchenne型肌营养不良症患儿肌膜α-和β-DG,α-、β-、γ-和δ-SG,syntrophin蛋白均呈现不同程度缺乏,但与增龄伴随的肌力下降并无关联性。结论 DGC复合物缺乏可能在出生前即已发生,建议Duchenne型肌营养不良症患儿在日常生活活动和康复训练中避免离心运动和抗高阻力动作对骨骼肌的进一步损伤。Background Eccentric exercise or high tension exercise could cause damage toskeletal muscle structure, resulting in deficiency of dystrophin and secondary loss of dystrophin-glycoproteincomplex（DGC） from the sarcolemma, which indicated that down-regulation of dystrophin was one of the keypoints of skeletal muscle injury from eccentric exercise. Duchenne muscular dystrophy（DMD） is caused bymutations of DMD gene, resulting in the absence of dystrophin, which means that skeletal muscles of DMDpatients after birth are in the natural state of actual path of force transmission which carried high tensionfrom eccentric exercise. This paper investigated systematically whether expression of DGC is associatedwith progressive muscle weakness in natural history of DMD, and analyzed the expression of DGC at thesarcolemma of 197 confirmed DMD cases（9 days-12 years old）.MethodsThe expression of α- and β-dystroglycan（DG）, α-, β-, γ- and δ-sarcoglycan（SG） and syntrophin at the sarcolemma of DMD patientswas analyzed by immunofluorescent staining.ResultsThe study showed that there was no relationshipbetween lack of proteins and progressive muscle weakness with increasing age, although expression of α-and β-DG, α-, β-, γ- and δ-SG and syntrophin at the sarcolemma at different stages of 197 DMD patients（9 days-12 years old） had different degrees of deficiency.ConclusionsDeficiency of DGC may occurbefore birth and DMD patients were recommended to avoid further damage to skeletal muscles fromeccentric exercise and high-resistance movement in activities of daily life and rehabilitation training.

关 键 词：肌营养不良 杜氏 肌营养不良蛋白相关蛋白复合物 运动损伤 

分 类 号：R746.2[医药卫生—神经病学与精神病学]