增龄相关听力丧失小鼠耳蜗毛细胞表型与基因突变的关系  

The relationship between histopathological changes and gene mutantation in mice with age-related hearing loss

作　　者：李胜利[1] 郑庆印 闫利英[1] 朱宏亮[1] 姚小宝[1] 郑有礼[1] 

机构地区：[1]西安交通大学医学院神经科学研究中心 [2]The Jackson Laboratory Bar Harbor,Maine 04609,USA

出　　处：《西安交通大学学报（医学版）》2004年第6期534-537,共4页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：国家自然科学基金项目资助 (39970 785);国际合作项目(30 2 1 0 1 0 31 51 );国家自然科学主任基金项目资助(30 0 4 4 0 80 )

摘　　要：目的　观察增龄相关听力丧失 (AHL)小鼠耳蜗毛细胞病理改变的超微结构 ,为老年性聋病理生理及临床表现+基因表型提供形态学改变依据。方法　应用扫描电镜 (SEM)观察BALB/c小鼠耳蜗Corti器毛细胞的超微结构改变 ,测定动物ABR反应阈值。DNA提取PCR扩增分析基因型。结果　 6月龄BALB/c小鼠耳蜗底回内外毛细胞有连续的缺失 ,静纤毛束有融合、散乱、变短和失去劲度。ABR阈值呈中到重度听力损失。证明种系特异的Ahl基因位点和基因功能。结论　耳蜗毛细胞静纤毛束融合、散乱、变短是老年性聋早期的主要病理改变 ,mdfw与Ah1的表现形式是同一基因位点 ,可能与myosin基因突变有关。Objective To determine the morphological change s of cochlear hair cell and their relationship with gene mutantation in mice with age-related hearing loss(AHL) mice, and to explore the dependence of the histop athological changes of prebycusis on their clinical pheqtypes. Mothods Scanning Electronic Microscope was used to examined ultrastructural changes of the cochlear hair cell and Auditory Brainstem Response (ABR) thresho lds were assessed. DNA was extracted from spleen tissue of BALB/c mice. Results The specific ultrastructural changes of the hair cell are short stereocilia, disarrayed, hair fusion and the sterecilia bundles loss in mi ce. The ABR threshold increased to mediate or serious hearing loss, associated w ith the mdfw alleles corresponding with previously determined Ahl allele effects . Conclusion Histophological changes of presbycusis are the hair cells disarray, fused and short stereocilia, also providing additio nal evidence that mdfw and Ahl are manifestations of the same gene site. This su ggests the myosin gene mutation is related to age-related hearing loss of the B ALB/c mice.

关 键 词：基因突变 耳蜗毛细胞 遗传性耳聋 老年性聋 

分 类 号：R764.436[医药卫生—耳鼻咽喉科]