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线粒体缺失突变相关老年性聋研究进展

The progress in research of the presbycusis associated with mitochondrial DNA deletion
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摘要 老年性聋是最常见的功能性致残性疾病,其发病原因和机制复杂,迄今尚未完全阐明,同时缺乏有效的治疗方法。迄今多数研究认为老年性聋是一种遗传因素与环境因素相互作用的复杂性疾病。其中人线粒体4977bp缺失突变(大鼠为4834bp缺失突变)被称为常见缺失突变,被认为与老年性聋密切相关。本文就线粒体相关老年性聋研究做一综述,介绍建立并利用相关研究模型,包括体内及体外模型对线粒体相关老年性聋进行发病机制及治疗方法研究的相关进展。 Presbycusis is the most common functional disabling disease,the pathogenesis of which has not been clarified up to now and there is lack of effective treatment method for this reason.It has been recently reported that it is a comprehensive disease resulted from the interaction between the hereditary factors and environmental factors.The 4977bp deletion of presbycusis in human(The 4834bp deletion of mitochondrial DNA in rat)were called the Common Deletion,which were considered relating to the Presbycusis.The aim of this paper is to review the studying of the presbycusis associated with mitochondrial DNA deletion,present the progress in pathogenesis and therapy research(using the established in vivo and in vitro model)of this presbycusis.
作者 孔维佳 胡钰娟 孙宇 杨阳 钟毅 赵学艳 KONG Wei-Jia;HU Yu-Juan;SUN Yu;YANG Yang;ZHONG Yi;ZHAO Xue-yan(Department of Otolaryngology,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei,430022,China)
出处 《声学技术》 CSCD 2014年第S01期11-13,共3页 Technical Acoustics
基金 国家自然科学基金重点项目:Sirt1基因在听觉系统退行性变中的作用机制及干预措施(81230021) 国家重点基础研究发展计划(973计划)项目第四课题:老年性性聋发病机制及干预措施的基础研究(2011CB504500) 国家自然科学基金重点项目:线粒体DNA突变导致老年性聋的机制和干预的研究(30730094)。
关键词 老年性聋 线粒体DNA 常见缺失 presbycusis mitochondrial DNA Common Deletion
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