蛋白质组学在先天性心脏病中的研究现状  

Current researches status on proteomics in congenital heart disease

作　　者：何静 刘瀚旻 He Jing;Liu Hanmin(Department of Pediatrics,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院儿科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2020年第6期627-633,共7页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：国家自然科学基金项目(81673257);国家重点基础研究发展规划(973计划)项目(2017CB511905)。

摘　　要：随着数据库中大量DNA序列的积累,研究人员越来越意识到,仅具有心血管疾病患者完整的基因组序列和数千个基因的转录变化,不足以从分子角度阐明心血管疾病的发病机制。基因组序列中开放阅读框的存在,并不意味着功能基因的存在。随着后基因组(postgenome)时代的到来,蛋白质组学(proteomics)作为一门采用大规模、高通量、系统化技术研究某一类型细胞、组织或体液中所有蛋白质组成及其功能的新兴学科,旨在从整体角度全面分析细胞内蛋白质表达水平和修饰状态的动态变化,了解细胞内蛋白质之间相互作用,从而揭示蛋白质功能和细胞生命活动规律。蛋白质组学专门从蛋白质角度研究生物学和病理生理学问题。先天性心脏病(CHD)作为我国活产儿首要的出生缺陷,是导致婴幼儿死亡和CHD相关并发症发生的主要原因之一,对CHD患儿早期诊断和干预是关键,超声检查是目前临床常用的CHD筛查策略,但是不适于对该病的早期筛查,而蛋白质组学可绘制心脏在任何时间和条件下表达的全部蛋白质,通过差异表达蛋白质分析,可确定与CHD病因及其进展、结果和治疗反应相关蛋白质变化。鉴定这些与CHD相关的特异表达蛋白质,研究其表达水平、翻译后修饰状态及功能特征,则是各种类型CHD病因及病理生理研究的基础和关键。笔者拟就蛋白质组学技术及分类、在CHD诊治及预后评估中的应用优势、最新研究现状、未来前景及展望进行阐述。With accumulation of large numbers of DNA sequences in databases,researchers have become increasingly aware that the complete genome sequence and transcriptional changes of thousands of genes in patients with cardiovascular disease alone are not sufficient to elucidate the pathogenesis of cardiovascular disease from a molecular perspective.The presence of an open reading frame in a genome sequence does not necessarily imply the presence of a functional gene.With the advent of the postgenome era,proteomics as a large-scale,high-flux,systematic emerging discipline,researches a particular type of all proteins in cells,tissues or body fluids through a variety of technologies,aims to analyze dynamic changes of protein expression in cells and modification status,understand the interaction between proteins in cells,and thus reveal protein function and cell life activities.Proteomics specializes in study of biological and pathophysiological issues from the perspective of proteins.Congenital heart disease(CHD)is the leading birth defect in China and one of the main causes of infants death and CHD-related complications,the early diagnosis and intervention of CHD is the key to CHD,ultrasound is a common screening method for CHD in clinical practice,but is not suitable for early screening of CHD,proteomics can map all proteins expressed in heart at any time and under any conditions,and determine the protein changes related to etiology,progression,outcome and treatment response of CHD through analysis of differential expressed proteins.The identification of these CHD-related specific proteins and to study their expression patterns,post-translational modification status and functional characteristics are the basis and key to etiology and pathophysiology of various types of CHD.This article focus on research status of technology and classification of proteomics,advantages and application of proteomics in diagnosis,treatment and prognosis evaluation of CHD,and the future prospects and prospects of proteomics.

关 键 词：蛋白质组学 先天性心脏病 血浆蛋白质组学 蛋白质类 蛋白质组学技术 体液和分泌物 生物学标记 

分 类 号：R541.1[医药卫生—心血管疾病]