Duchenne肌营养不良(DMD)发病机制及治疗研究进展  

The research progresses of Duchenne muscular dystrophy (DMD) in it’s pathogenesis and therapy

作　　者：刘延波[1] 徐乃军[1] 贾飞勇[1] 

机构地区：[1]吉林大学第一医院二部儿科,长春130031

出　　处：《生命科学》2012年第4期354-361,共8页Chinese Bulletin of Life Sciences

摘　　要：Duchenne肌营养不良(Duchenne muscular dystrophy,DMD)为X连锁、隐性、致死性遗传病,其致病基因位于X染色体的Xp21.1-3区,编码抗肌萎缩蛋白dystrophin。随着对该病研究的不断深入,人们从宏观到微观对DMD的再认识不断更新,发现其发病涉及到从基因、胞膜缺陷,到细胞的炎性机制,以及纤维化及肌细胞再生等多个层面。就其细胞及亚细胞水平发病机制及治疗上的进展进行综述。Duchenne muscular dystrophy（DMA） is an X-linked,recessive,and lethal genetic disease,and the causative gene locates in the region of Xp21.1-3,which expresses dystrophin.As the researches go on,the recognition of this disease updates from macro to micro levels,which involves many aspects from gene,to defects of cell membrane,to cellular immune mediated mechanisms,and to fibrosis and regeneration of muscle cells,etc.This review mainly focuses on the cellular and subcellular research progresses of DMD in it’s pathogenesis and therapy.

关 键 词：DUCHENNE肌营养不良 发病机制 治疗 抗肌萎缩蛋白 

分 类 号：R746.2[医药卫生—神经病学与精神病学]