病态窦房结综合征基因突变的研究进展

Research Progress in Genetic Mutations of Sick Sinus Syndrome

窦房结作为心脏生理性起搏点,是维持心脏正常循环和传导的重要组织。病态窦房结综合征(SSS)引起的窦性心动过缓、窦性停搏等恶性心律失常,严重影响患者的生活质量,甚至危及生命。一方面,SSS发病机制与年龄相关,随着年龄的增加,窦房结组织出现明显纤维化及起搏蛋白表达降低,从而影响窦房结功能,此类患者多为老年人。另一方面,编码窦房结离子通道和结构蛋白的基因如HCN4、SCN5A、CACNA1D、ANK2、LMNA等发生突变,会导致窦房结冲动产生和传导障碍,而此类多发生于青少年。通过发掘与SSS相关的突变基因,结合基因工程技术,可为SSS治疗方法开辟新的研究道路。

As a physiological pacing point,the sinus node is an essential tissue for maintaining normal circulation and conduction of the heart.Sick sinus syndrome(SSS)causes sinus bradycardia,sinus arrest and other malignant arrhythmias,which seriously affect the quality of life of the patients,and can even be life-threatening.On one hand,the pathogenesis of SSS is related to age,and with age increased,the sinoatrial node tissues have obvious fibrosis and the expression of pacemaker protein decreasesaffecting the sinus node function,and such patients are mostly the elderly.On the other hand,genetic mutations such as HCN4,SCN5A,CACNA1D,ANK2 and LMNA,which encode the relative ion channels and structural proteins of sinus node,can lead to sinus node impulse generation and conduction disorder,mostly in the youth.By discovering mutated genes related to SSS and combining with genetic engineering technology,a new research path can be opened for SSS therapy.