不同信号通路基因在心脏和先天性心脏病发生和发展中的作用  

The role of various signaling pathway genes in the occurence and development of cardiomyogenesis and congenital heart disease

作　　者：曾庆轩[1,2] 李瑶[1,2] 钱语[1,2] 李飞峰[1,2] 刘树林[1,2,3] 

机构地区：[1]哈尔滨医科大学药学院,150081 [2]哈尔滨医科大学基因组中心,150081 [3]T2N4N1卡尔加里 加拿大卡尔加里大学微生物学系

出　　处：《国际遗传学杂志》2014年第6期296-303,共8页International Journal of Genetics

基　　金：国家自然科学基金资助项目（NSFC30870098,30970119,81030029）;黑龙江省教育厅基金资助项目（12541431）;哈尔滨医科大学药学院大学生创新基金项目

摘　　要：先天性心脏病是一种常见的新生儿出生缺陷疾病，我国每年有12万～20万先心病患儿出生，其中多数为复杂型先天性心脏病，严重危害新生儿的健康，给社会和患者家庭带来沉重的负担。先天性心脏病的发病机制非常复杂，多数是由于环境因素和遗传因素共同作用的结果，其中许多患者是由于多种基因和信号通路共同作用的结果，例如， TGF-β、Nodal、MAPK、Wnt、Notch 等信号通路以及同型半胱氨酸甲硫氨酸循环途径与心脏发育密切相关，其中任何一个基因或信号通路异常都有可能导致先天性心脏病。该文以各种信号通路为主线，总结各信号通路及相关基因在心脏发育中的作用，以及这些信号通路和基因改变或异常表达引发先天性心脏病的致病机制。Congenital heart diseases are the common disease in birth defects .There are 120000 to 200000 children born with congenital heart disease in China each year , most of which are complex congenital heart diseases , seriously harming the health of the newborn , and bring heavy burden to commu-nity and the patient＇s family .The pathogenesis of congenital heart disease is complex , mostly of which due to the co-effects of environmental and genetic factors .Many patients get congenital heart diseases due to the combined action of multiple genes and signaling pathways , such as TGF-β, Nodal , MAPK , Wnt , Notch and homocysteine methionine signaling pathways which are closely associated with the cardiac devel -opment , and any abnormality in these genes or signal path ways may lead to congenital heart disease .In this paper , we summarizd the roles of various signaling pathways and their related genes in heart development , and how changes or abnormalities in these signaling pathways and genes caused congenital heart disease .

关 键 词：先天性心脏病 法洛四联征 信号通路 遗传因素 基因调控 

分 类 号：R725.4[医药卫生—儿科]