A型核纤层蛋白基因突变与扩张型心肌病  

Lamin A/C Gene Mutation and Dilated Cardiomyopathy

作　　者：阳茂春[1] 马国添 

机构地区：[1]广西医科大学第一附属医院临床医学实验中心,广西南宁530021 [2]广西心血管病研究所,广西南宁530021

出　　处：《心血管病学进展》2007年第3期469-471,共3页Advances in Cardiovascular Diseases

基　　金：广西医疗卫生重点科研课题(合同号:重200530)

摘　　要：A型核纤层蛋白决定细胞核的大小及形状,与细胞核的稳定性、染色质结构以及基因表达有关。A型核纤层蛋白基因突变是扩张型心肌病病因之一,目前已经发现许多与扩张型心肌病发病相关突变位点。A型核纤层蛋白基因突变引起心肌细胞核膜破坏,核纤层蛋白与其他核膜蛋白、染色质连接异常;进一步引起心肌细胞功能失常,影响转录、染色体的构成和细胞收缩功能,导致扩张型心肌病的发生。Lamin proteins are thought to determine the size and shape of cell nuclei and to be involved in nuclear stability,chromatin structure and gene expression. Lamin A/C mutation is one of the etiological factors of dilated cardiomyopathy. Many mutational sites of lamin A/C have now been found. Lamin A/C mutation can result in disrupted cardiocyte nuclear envelope and disturbed interactions between lamin A/C proteins and other nuclear envelope proteins and chromatin. Furthermore, it may lead to the dysregulation of cardiocyte cellular functions,such as transcription,chromosome organisation,and contractile function. These abnormalities are involved in the pathogenesis of dilated cardiomyopathy.

关 键 词：A型核纤层蛋白 扩张型心肌病 基因 突变 

分 类 号：R542.2[医药卫生—心血管疾病]