Duchenne型肌营养不良症肌肉超微病理研究  

A study of ultrastructural features on the muscles in patients with Duchenne muscular dystrophy

作　　者：吕佩源[1] 宋春风[2] 刘贵生[2] 崔文柱[1] 赵宝华[1] 赵玉珍[2] 

机构地区：[1]河北省人民医院神经内科,石家庄050051 [2]河北医科大学电镜中心

出　　处：《脑与神经疾病杂志》2008年第4期343-345,共3页Journal of Brain and Nervous Diseases

基　　金：河北省自然科学基金资助项目(397402)

摘　　要：目的:观察Duchenne型肌营养不良症(DMD)患者病变肌肉超微病理特征,从亚细胞水平上探讨其发病机制。方法:对临床确诊的7例DMD患者,通过肌肉活检进行超薄切片和冷冻复型透射电镜观察。结果:超薄切片电镜观察显示:(1)肌原纤维"Z"线模糊不清,肌原纤维过收缩、肌丝排列紊乱等变性、坏死。(2)肌纤维内线粒体空泡样变;糖原累积;肌浆网有程度不等的病变。(3)间质毛细血管内皮细胞肿胀、闭塞,血流瘀滞。冷冻复型电镜观察显示:粗细肌丝排列紊乱,膜蛋白颗粒大小不等的变化。结论:DMD时,肌细胞膜结构缺陷除可导致肌纤维变性、坏死外,还可致线粒体、糖原、肌浆网及肌原纤维板层体膜内颗粒等一系列亚细胞水平的变化;另外,血液循环障碍可导致肌细胞继发变性、坏死,推测在本病的发病中也起着重要作用。Objective：To inquire into the pathological significance of ultrastructural changes and pathogenesis in patients with Duchenne muscular dystrophy（DMD）.Methods：The specimens of muscle biopsy taken from 7 DMD patients were studied with light microscope,ultrathin section and freeze-replica transmission electron microscope（TEM）.Results：The outstanding ultrastructural changes were extensive disruptions of plasma membrane,destructions of ＂Z＂ bands and myofilaments,degeneration of mitochondria,accumulation of glycogen granules and dilatation of sarcoplasmic reticulum.And the occluded capillary in which endothelial cell swellen was also observed.The freeze-replica samples show the arrangement of thin and thick myofilament appear in disorder,and intramembranous particles（IMP） in lamellae between myofilaments were abnormal in uneven size.Conclusion：The loss of dystrophin expression is a cause that leads to degeneration and necrosis of myofibril,mitochondrial calcium overload,abnormal metabolism of glycogen granules,increased calcium content in sarcoplasm,and lesion of lamellae IMP.In addition,abnormalities of blood circulation plays an important role in the pathogenesis of DMD which could accelerate the degeneration and necrosis of muscle fiber.

关 键 词：DUCHENNE型肌营养不良症 线粒体 糖原 肌浆网 板层体 微血管 

分 类 号：R361.3[医药卫生—病理学]