摘要
耳聋是全球公共卫生问题,严重影响人们的正常生活。据世界卫生组织（WHO）统计,全球约3.6亿人（3.28亿成人和3 200万儿童）有残疾性听力损失。耳聋由遗传因素和环境因素引起,其中大于50%的耳聋患者有遗传基础或遗传易感体质,耳聋的遗传方式可表现为常染色体显性遗传、常染色体隐性遗传、X连锁遗传和母系遗传。
Mitochondrial DNA mutations are one of the most important causes of sensorineural hearing loss.A1555 Gand C1494Tmutations of mitochondrial 12 SrRNA gene are the molecular basis for aminoglycoside hypersensitivity and can lead to aminoglycoside-induced hearing loss.Primary mutations in tRNA such as tRNASer（UCN）7472insC are associated with syndromic hearing loss.While other mutations such as tRNASer（UCN）G7444A were considered synergy with the primary tRNA mutations,modulating the phenotypic manifestation.This review describes a detailed summary of hearing loss associated with mtDNA mutations and/or aminoglycoside antibiotics,and provides the possible molecular mechanisms in deafness expression.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
2015年第22期1936-1940,共5页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
浙江省自然科学基金(No:Y2110399)
浙江省卫生厅医药卫生科学研究基金(No:Y2009A135)
温州医科大学科研发展基金项目(No:QTJ13017)
