SCN9A基因研究进展  

Research Progress of SCN9A Gene

作　　者：孙贺东[1] 资晓宏[1] 

机构地区：[1]中南大学湘雅第三医院神经内科,长沙 410013

出　　处：《国际遗传学杂志》2009年第1期27-31,共5页International Journal of Genetics

基　　金：国家自然科学基金（30671152）

摘　　要：SCN9A基因编码电压门控钠离子通道α-亚单位第Ⅸ型，主要在周围神经系统的感觉和交感神经表达，在背根神经节高表达。2004年我国学者杨勇等证明SCN9A是原发性红斑性肢痛症的致病基因．后来又有研究表明SCN9A是阵发性剧痛症、先天性无痛觉症的致病基因，SCN9A基因的致病机制及其与痛觉的关系逐渐成为科研热点，国内外学者在基于膜片钳技术的分子水平和基因敲除技术的整体水平都做了大量研究，本文对其研究进展作一概述。SCNgA, encoding the voltage-gated sodium channel alpha subunit type IX, is predominantly expressed in sensory and sympathetic neurons, with strikingly high levels in DRG. In 2004, Yang-yong and others firstly found out that the mutations in SCNgA caused primary erythermalgia（IEM） , and then researchers found out that SCNgA mutations also caused paroxysmal extreme pain disorder （PEPD） and congenital indifference to pain（CIP）. The pathogenic mechanism of SCNgA mutations and the relationship between SCNgA and pain have gradually become a hot spot of today＇s research. Up till now, there are many studies on,SCNgA gene either on molecular level based on patch clamp technique or on global level based on gene knock-out technique. In this article we make a review of these studies.

关 键 词：SCNgA 原发性红斑性肢痛症 阵发性剧痛症 先天性无痛觉症 

分 类 号：R747.4[医药卫生—神经病学与精神病学]