内皮素B受体基因与先天性巨结肠关系的研究进展  

Advances in research of the relationship between endothelin receptor type B and Hirschsprung's disease

作　　者：张万里[1] 王国斌[1] 陶凯雄[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院普外科,湖北省武汉市430022

出　　处：《世界华人消化杂志》2009年第25期2607-2611,共5页World Chinese Journal of Digestology

基　　金：国家自然科学基金资助项目;No.30872473~~

摘　　要：EDNRB/EDN3/ECE-1信号传导通路在胚胎发育期神经嵴细胞分化、迁移、发育为神经节细胞的过程中起到关键作用.内皮素B受体(endothelin receptor type B,EDNRB)基因突变导致该信号传导通路异常,神经嵴细胞迁移停顿,远端结直肠肌层间和黏膜下神经丛神经节细胞缺如而发生先天性巨结肠.The endothelin receptor type B （EDNRB）/ endothelin-3 （EDN3） / endothelin-converting enzyme-1 （ECE-1） signaling pathway plays an important role in the differentiation and migration of neural crest cells to form ganglion cells during embryonic development. Mutations in the EDNRB gene can give rise to abnormalities in the EDNRB/EDN3/ECE-1 signaling pathway and terminate the migration of neural crest cells. The absence of ganglion cells in the myenteric and submucosal plexuses of the distal colon and rectum results in the development of Hirschsprung＇s disease.

关 键 词：内皮素B受体 先天性巨结肠 基因突变 

分 类 号：R726.5[医药卫生—儿科]