SLC26A4基因剪接突变致聋机制的研究进展  

Advances in Research on Pathogenesis of Hearing Loss Related to SLC26A4 Gene Splicing Mutation

作　　者：梁悦 熊观霞[1] 王月莹 岑晓晴 陈垲钿[1] LIANG Yue;XIONG Guanxia;WANG Yueying;CEN Xiaoqing;CHEN Kaitian(Department of Otolaryngology Head and Neck Surgery,First Affiliated Hospital,Sun Yat-sen University)

机构地区：[1]中山大学附属第一医院耳鼻咽喉头颈外科,广州510080

出　　处：《中华耳科学杂志》2023年第3期415-419,共5页Chinese Journal of Otology

基　　金：广东省自然科学基金(2022A1515220176,2019A1515110158);国家重点研发计划项目(2020YFC2005204);广州市科技规划项目(202103000079);中山大学青年教师培育项目(20ykpy54)。

摘　　要：SLC26A4基因突变是世界范围内导致遗传性耳聋的第二大常见病因,因其序列长,内含子丰富,可变剪接位点多,故SLC26A4基因发生剪接突变的机率较大。近年来,研究者们通过构建minigene和进行RNA剪接实验等方法发现SLC26A4基因剪接突变会出现不同错误剪接的结果,并针对不同的剪接错误利用基因治疗手段去恢复其正常的剪接。根据先前研究结果,我们可以深入了解SLC26A4基因剪接突变的致病机制,为SLC26A4基因相关听力损失的患者提供治疗方案。Mutations in the human SLC26A4 gene are the second leading contributor to congenital hearing loss worldwide.Variable splicing sites on SLC26A4 gene cause a high probability of splicing mutations given the length of the SLC26A4 gene sequence and abundant introns.Recently,a series of studies on pathogenic mechanisms of SLC26A4 gene splicing mutations have been conducted,including establishment of minigene and RNA splicing analysis,which show that splicing mutation results in various splicing errors with some of them rescuable by gene therapy strategies to restore normal splicing.These studies have improved our understanding of the pathogenesis of SLC26A4 gene splicing mutation,and may lead to development of potential treatments for patients with SLC26A4-related hearing loss.

关 键 词：SLC26A4 听力损失 剪接突变 基因治疗 

分 类 号：R764[医药卫生—耳鼻咽喉科]