PNPLA3基因在非酒精性脂肪性肝病中的作用  

Advances in understanding the role of PNPLA3 in the pathogenesis of non-alcoholic fatty liver disease

作　　者：李冬阳[1] 林连捷[2] 郑长青[2] 

机构地区：[1]中国医科大学附属盛京医院,辽宁省沈阳市110004 [2]中国医科大学附属盛京医院消化内科,辽宁省沈阳市110004

出　　处：《世界华人消化杂志》2011年第17期1796-1801,共6页World Chinese Journal of Digestology

基　　金：辽宁省科学技术基金资助项目;No.2010225008;辽宁省博士科研启动基金资助项目;No.20081048;沈阳市科学技术基金资助项目;No.F10-205-1-17~~

摘　　要：非酒精性脂肪性肝病(non-alcoholic fatty liver disease,NAFLD)在世界范围内发病率成日益上升趋势,其相关基因研究对完善其致病机制,补充其治疗方案及改善预后至关重要.目前,国内外多项实验证实含patatin样磷脂酶域3(PNPLA3)基因突变与NAFLD密切相关,考虑其与肝脏脂代谢有关,但就其致病机制仍无详细阐释.部分文献认为PNPLA3作为patatin样磷脂酶家族,考虑其可能有三酰甘油水解酶活性从而影响肝脏脂肪代谢.也有文献认为PNPLA3突变干扰了脂质转运的过程.本文详细介绍PNPLA3基因及其表达,并就PNPLA3基因突变与NAFLD相关性进行综述.The incidence of non-alcoholic fatty liver disease （NAFLD） is rising worldwide. Investigation of genes involved in the pathogenesis of NAFLD is significant for replenishing treatment scheme and improving prognosis. Multiple studies have established a correlation between patatin-like phospholipase domain-containing 3 （PNPLA3） gene mutation and the pathogenesis of NAFLD, suggesting that PNPLA3 may affect lipid metabolism. However, the precise mechanism remains to be elucidated. Some researchers believed that PNPLA3 as a patatin-like protein might have triglyceride hydrolysis activity and therefore affect fat metabolism in the liver, while some others thought that PNPLA3 mutation might interfere with the lipid transfer process. In this paper, we give an overview of the PNPLA3 gene and its expression, and explore the correlation between PNPLA3 gene mutation and the pathogenesis of NAFLD.

关 键 词：含patatin样磷脂酶域3 脂肪滋养蛋白 非酒精性脂肪性肝病 基因突变 

分 类 号：R575.5[医药卫生—消化系统]