线粒体基因突变相关遗传性耳聋的研究进展  

Progress of Research on Hereditary Deafness Associated with Mitochondrial Gene Mutations

作　　者：齐心 苏钰 戴朴[2] QI Xin;SU Yu;DAI Pu(Department of Otolaryngology-Head and Neck Surgery,PLA General Hospital in Hainan,Sanya 572013,China;不详)

机构地区：[1]中国人民解放军总医院海南医院耳鼻咽喉头颈外科,三亚572013 [2]中国人民解放军总医院耳鼻咽喉头颈外科医学部、国家耳鼻咽喉疾病临床医学研究中心

出　　处：《中华耳科学杂志》2024年第4期689-693,共5页Chinese Journal of Otology

基　　金：海南省自然科学基金重点研发计划项目(ZDYF2020142);国家自然科学基金国家重大科研仪器研制项目(61827805);国家自然科学基金青年项目(81400471)。

摘　　要：线粒体是真核细胞有氧呼吸的场所,通过氧化磷酸化产生三磷酸腺苷,与细胞分化、信号转导、代谢稳态、细胞凋亡等密切相关。线粒体内蛋白质大部分由核基因编码,少部分由线粒体DNA(mitochondrial DNA,mtDNA)基因编码。mtDNA突变可使线粒体内蛋白质合成异常,导致细胞功能障碍,mtDNA突变是导致遗传性耳聋的重要原因之一。我们从影响因素、突变位点、治疗、预防方面综述mtDNA突变与遗传性耳聋的最新研究进展,重点介绍mtDNA点突变相关的非综合征性耳聋。Mitochondria are the site of aerobic respiration in eukaryotic cells.ATP is produced by oxidative phosphorylation,which is closely related to cell differentiation,signal transduction,metabolic homeostasis and cell apoptosis.Most of the proteins in mitochondria are encoded by nuclear genes,while a small part is encoded by mitochondrial DNA(mtDNA).mtDNA mutation can cause abnormal protein synthesis in mitochondria and lead to cell dysfunction.mtDNA mutation is one of the important causes of hereditary deafness.This article reviews the latest progress of research on mtDNA mutations and hereditary deafness from the aspects of influencing factors,mutation sites,and treatment and prevention,focusing on the mtDNA point mutation in nonsyndromic hearing loss.

关 键 词：线粒体 基因突变 遗传性耳聋 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]