DMD、BMD患者骨骼肌、皮肤立毛肌肌营养不良蛋白同时欠损  

Dystrophin-Deficiency in skeletal muscle and in the dermatic arrector pili muscles of the patients with the DMD and BMD

作　　者：刘亚玲[1] 胡静[2] 袁军辉[2] 李娜[2] 梅丽[2] 张祥宏[3] 刘彦[2] 

机构地区：[1]河北医科大学第三医院皮肤科,石家庄050000 [2]河北医科大学第三医院神经肌病科神经肌病实验室 [3]河北医科大学第二医院病理科

出　　处：《中国神经精神疾病杂志》2006年第4期322-326,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金资助项目(编号:30340062);中华人民共和国人事部留学人员科技活动项目择优资助项目;河北省自然科学基金资助项目(编号:C2006000838);河北省科技厅基金资助项目(编号:05276403D-14)

摘　　要：目的研究、对比肌营养不良蛋白(dystrophin)在杜兴型肌营养不良(Duchenne muscular dystrophy,DMD)和贝克型肌营养不良(Becker muscular dystrophy,BMD)患者活检骨骼肌、皮肤立毛肌中的表达。方法用肌营养不良蛋白三个不同区域的单克隆抗体(Dystrophin-N、-C、-R)对11例DMD患者,5例BMD患者和3例其他神经肌病患者同时行活检骨骼肌、皮肤免疫组织化学染色分析。结果与对照例相比,11例DMD患者抗Dystro-phin-N、-C、-R单克隆抗体免疫组织化学染色显示:骨骼肌肌纤维膜Dystrophin-N、-C、-R呈完全欠损;皮肤立毛肌Dystrophin-N、-R完全欠损,Dystrophin-C轻微表达。5例BMD患者抗Dystrophin-N、-C、-R单克隆抗体免疫组织化学染色显示:肌营养不良蛋白在骨骼肌肌纤维膜和皮肤均呈不完全欠损。结论DMD和BMD患者肌营养不良蛋白在骨骼肌肌纤维膜、皮肤立毛肌呈完全/不完全欠损,与骨骼肌活检相同,皮肤活检也是分子病理学诊断DMD、BMD简便、易行、可靠的方法。Objective To study and contrast the expression of Dystrophin in skeletal muscle and in Arrector pili muscle of the patients with Duchenne muscular dystrophy （DMD） and Becker muscular dystrophy（BMD）. Methods Immunohistochemical stains using anti-Dystrphin monoclonal antibodies of three diffcrent domains （ Dystrophin - N, - C, - R） were procedured for 11 patients with DMD,5 patients with BMD and 3 other patients with neuromyopathies. Analysis the expression of the Dystrophin in the skeletal muscles and in the skin. Results Compared to the controls, in the 11 cases with DMD, the Dystrophin -N, -C, -R on the sarcolemma of skeletal muscle were completely deficient; in the arrector pili muscles the Dystrophin - N, - R were absent, whereas the Dystrophin - C showed slightly expressed. In the 5 cases with the BMD, Dystrophin are partly deficient both on the sarcolemma of the skeletal muscle and in the arrector pili muscles. Conclusion It is completely or partly deficient on the sarcolamma of the skeletal muscle and in the arrector pili muscles in the patients with the DMD and BMD; Some as the skeletal muscle biopsy, the skin biopsy is also a useful, easy and trustworthy method to molecular pathological diagnose the DMD and BMD.

关 键 词：杜兴型肌营养不良 贝克型肌营养不良 肌营养不良蛋白 立毛肌 肌纤维膜 

分 类 号：R746.2[医药卫生—神经病学与精神病学]