心脏钠离子通道基因突变与心律失常关系的研究进展

摘要

随着基因遗传学和分子生物学技术的发展,发现越来越多的疾病发病与基因突变和遗传因素有关,但具体的作用机制尚未明确,探索基因突变的分子生物学致病机制,利用基因、细胞生物治疗工具,为疾病的靶向治疗开辟了新途径.钠离子通道病是一类与钠离子通道功能障碍相关的疾病,基因突变水平的致病机制在近几年得到深入研究,许多不明原因的致死性心律失常包括Brugada综合征、长QT综合征、孤立型心房颤动、室性心律失常及病态窦房结综合征等均发现与编码心脏钠离子通道的基因突变相关,了解人类心脏钠离子通道基因突变与心律失常关系的研究进展可为心律失常的治疗带来新的靶点.%With the development of genetics and molecular biological technique,it's found that more and more diseases are related to gene mutation and genetic factors,but the specific molecular mechanism is not yet clear.Exploring the molecu-lar biology pathogenic mechanism of gene mutations,using molecular and cellular biological treatment tools,have opened a new approach in targeted therapy of the diseases.Sodium ion channel diseases are associated with sodium ion channel dys -function,and the gene mutation pathogenic mechanisms are gradually in-depth studied in recent years.It's found that many unexplained fatal arrhythmia including Brugada syndrome,isolated atrial fibrillation,long QT syndrome,ventricular arrhyth-mia and sick sinus syndrome etc.,are all associated with cardiac sodium channel coding gene mutation.Understanding the relationship between human cardiac sodium channel gene mutation and arrhythmia may open a new approach in targeted therapy of arrhythmia.