金属蛋白酶mTLL-1与心血管疾病

哺乳动物Tolloid样1(mTLL-1)属于金属肽链内切酶中虾红素家族的成员,由tll1基因编码。由于其与骨形态发生蛋白1(BMP-1)在结构和功能上具有高度的同源性,因而也属于BMP-1类分子。mTLL-1在心脏发育过程中起着关键作用,mTLL-1功能缺陷可能是导致心房间隔缺损的重要因素之一,近期研究发现心房间隔缺损的患者中存在mTLL-1基因突变。在此综述了mTLL-1在心脏中的表达、mTLL-1与心脏和主动脉形成及定位缺陷、mTLL-1与心脏分隔、mTLL-1基因突变与房间隔缺损以及mTLL-1与其他心脏畸形。

Metalloproteinase mTLL-1 and Cardiovascular Diseases

Metalloprotease mammalian tolloid-like 1(mTLL-1)encoded by TLL1 gene is a member of metalloendoproteinase astacin family.This protein is highly homologous to morphogenetic protein-1(BMP-1)in terms of both structure and function,thus belonging to BMP-like protease.Recent studies show that mTLL-1 plays a key role in heart development,and mTLL-1 defect may be an important cause of atrial septal defect.Recent studies identify mTLL-1 gene mutation in patients with atrial septal defect.This article reviews the expression of mTLL-1 in heart,association of Mtll-1 with cardiac and aortic formation and location defects,septal defects,and other malformations.