《生命科学》 2012, 24(4): 354-361

Duchenne肌营养不良(DMD)发病机制及治疗研究进展

刘延波，徐乃军^*，贾飞勇

(吉林大学第一医院二部儿科，长春 130031)

摘　要：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。
关键词：Duchenne肌营养不良；发病机制；治疗；抗肌萎缩蛋白

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

LIU Yan-Bo， XU Nai-Jun^*， JIA Fei-Yong

(Department of Pediatrics， the First affiliated Hospital， Jilin University， Changchun 130031， China)

Abstract: Abstract: 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.
Key words: Duchenne muscular dystrophy; pathogenesis; therapy; dystrophin