扩张型心肌病相关基因的研究与进展

Progress in the related factors of dilated cardiomyopathy

目的:分析基因突变与扩张型心肌病发病的可能关系。资料来源:应用计算机检索Pubmed及EnglishMedicalCurrentContents(EMCC)数据库1998-01/2005-11关于基因突变与扩张型心肌病的文献,检索词为“dilatedcardiomyopathy,gene,mutation”,语言种类为English。同时检索ChineseMedicalCurrentContents(CMCC)数据库2000-01/2005-11有关扩张型心肌病遗传学研究的文献,检索词为“扩张型心肌病,基因,突变”,并限定语言种类为中文。资料选择:对检索结果进行初审,选取基因突变与扩张型心肌病方面的相关信息进行整理,筛除明显不相关的或针对性不强的文章。同一领域的文章则选择近期发表或权威杂志文章。资料提炼:进一步整理分析所选的37篇文献,筛除重复的研究或Meta分析,最后选择符合标准的20篇文章作为参考文献。资料综合:扩张型心肌病是一种多病因、多因素的心肌疾病,其发病与病毒感染、自身免疫反应、细胞凋亡及遗传因素等相关。近年来,研究表明遗传因素在其发病中起着重要作用,国内外学者发现了许多与扩张型心肌病相关的基因突变,这些突变主要位于细胞骨架蛋白编码基因、肌小节蛋白编码基因及线粒体DNA等。结论:基因突变在扩张型心肌病的发病中起着重要作用,突变基因的检测将有利于扩张型心肌病的早期诊断、早期预防及特定基因个性化治疗。但目前仍有许多实际问题有待进一步探讨。

OBJECTIVE： To analyze the association between gene mutation and dilated cardiomyopathy. DATA SOURCES： The Pubmed database and English Medical Current Contents （EMCC） database were searched by computer for articles on gene mutation and dilated cardiomyopathy with the keywords of ＂dilated cardiomyopathy, gene, mutation＂ in English from January 1998 to November 2005. Meanwhile, the Chinese Medical Current Contents （CMCC） database was retrieved for the relevant Chinese articles about the genetics of dilated cardiomyopathy published between January 2000 and November 2005 by inputting the keywords of ＂dilated cardiomyopathy, gene, mutation＂. STUDY SELECTION： The materials were selected firstly, then the articles about gene mutation and dilated cardiomyopathy were enrolled, and those with obviously indifferent contents or less pertinence were excluded. Among the researches in the same field, those recently issued or published in the authoritative journals were preferred. DATA EXTRACTION： A total of 37 relevant articles were further analyzed to exclude the repeated research or Meta analysis. Finally 20 literatures accorded with inclusive criteria were collected as references. DATA SYNTHESIS： Dilated cardiomyopathy is a complex and muhifactorial cardiomyopathy, which may be caused by viral infection, autoimmune response, apoptosis and genetic factor. Recently it has been indicated that genetic factor plays a significant role in the onset of cardiomyopathy. Many gene mutations associated with the pathogenesis of dilated eardiomyopathy have been identified by the scholars home and abroad, and mainly locate in the genes encoding cytoskeletal or sarcomeric proteins and mitoehondrial DNA. CONCLUSION： Gene mutation makes great impacts on the pathogenesis of dilated eardiomyopathy. The detection of mutants will contribute to the pristine diagnosis, prevention and gene-speeific therapy for patients with dilated eardiomyopathy. However, the exact pathogenesis is still unclear at present and much more investigations are required.