| SCN5A基因突变与心律失常的研究进展 |
| |
| 引用本文： | 马芳芳,李敏,郑明奇,王乐,吉立双,刘刚.SCN5A基因突变与心律失常的研究进展[J].中华全科医学,2019,17(11):1902. |
| |
| 作者姓名： | 马芳芳 李敏 郑明奇 王乐 吉立双 刘刚 |
| |
| 作者单位： | 河北医科大学第一医院心脏中心, 河北 石家庄 050031 |
| |
| 基金项目： | 河北省重点研发计划项目(16277707D，17277754D) |
| |
| 摘 要： | 近年来分子生物学及分子电生理的迅速发展，开创了心律失常机制研究新纪元。心律失常与离子通道基因表达异常明确相关，多个离子通道基因的突变可引起各种心律失常。目前，已知绝大多数的原发性心电异常都是由编码各主要离子通道亚单位的基因突变引起的，因此，这类病可称为“离子通道病”。Nav1.5通道是人类主要的心脏钠离子通道类型，负责动作电位的起始和传播，由SCN5A基因编码。自从在长QT综合征(long QT syndromeL，QTS)家系中发现心脏钠离子通道α亚基的编码基因SCN5A第一个突变以来，目前已经发现数百个突变与一系列遗传性心律失常有关，如长QT综合征3型(LQT3)、Brugada综合征、进展性心脏传导阻滞(PCCD)、扩张型心肌病(DCM)、婴儿猝死综合征(SIDS)等。近年来发现SCN5A基因突变与病态窦房结综合征(SSS)，房性心律失常(心房颤动，心房静止)，室性心律失常和起搏夺获不良密切相关。本文将详细阐述近年来SCN5A基因突变在SSS、房性心律失常(心房颤动，心房静止)、起搏夺获不良、室性心律失常和长QT综合征3型的研究进展，SCN5A功能获得性和功能丧失致病突变潜在的机制以及目前存在的问题和挑战。
|
| 关 键 词： | SCN5A基因突变 病态窦房结综合征 房性心律失常 起搏夺获不良 室性心律失常 |
| 收稿时间： | 2018-12-25 |
Advances in research on SCN5A gene mutation and arrhythmia |
| |
| Affiliation: | Heart Center, the First Hospital of Hebei Medical University, Shijiazhuang, Hebei 050031, China |
| |
| Abstract: | In recent years, the rapid development of molecular biology and molecular electrophysiology has opened up a new era of arrhythmia mechanism research. Arrhythmias are clearly associated with abnormal expression of ion channel genes, and genes mutations in multiple ion channel can cause various arrhythmias. At present, most of the primary electrocardiographic abnormalities are caused by gene mutations encoding the major ion channel subunits. Therefore, such diseases can be referred to as ion channel diseases. The Nav1.5 channel is the main type of cardiac sodium channel in humans and is responsible for the initiation and propagation of action potentials. It is encoded by SCN5A gene. Since the first mutation in the gene SCN5A of the cardiac sodium channel alpha subunit was found in the family of long QT syndrome. Hundreds of mutations have been found to be associated with a range of hereditary arrhythmias. Such as, long QT syndrome type 3 (LQT3), Brugada syndrome, progressive cardiac conduction block (PCCD), dilated cardiomyopathy (DCM), sudden infant death syndrome (SIDS), etc. In recent years, it has been found that SCN5A gene mutation is closely related to sick sinus syndrome, atrial arrhythmia (atrial fibrillation, atrial standstill), ventricular arrhythmia and poor pacemaker capture. This article will elaborate on the recent SCN5A gene mutation in sick sinus syndrome (SSS), atrial arrhythmia (atrial fibrillation, atrial standstill), poor pacemaker capture, ventricular arrhythmia and long QT syndrome type 3, the potential mechanisms of gain-of- function and loss-of-function SCN5A mutations, and current problems and challenges. |
| |
| Keywords: | |
|
| 点击此处可从《中华全科医学》浏览原始摘要信息 |
|
点击此处可从《中华全科医学》下载全文 |
|
