钙黏蛋白23与耳聋相关性的研究进展
Advances in research on the correlation between cadherin 23 and deafness
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摘要: 耳聋是常见的致残原因之一,其发生、发展受多种因素的影响。大量基础临床研究表明,钙黏蛋白23是与内耳功能密切相关的细胞结构蛋白。本研究综述了有关钙黏蛋白23的分子结构与生物功能的国内外研究进展,阐述了钙黏蛋白23在毛细胞发育中的作用以及其与临床症状的相关性,揭示了钙黏蛋白23在维持内耳毛细胞纤毛束的形态和功能完整性中的重要作用,探讨编码钙黏蛋白23的钙粘着蛋白23基因(Cdh23)的不同突变形式在临床检测中的应用,为耳聋的早期临床基因诊断研究提供新的方向。Abstract: Deafness is one of the common causes of disability. Its occurrence and development are affected by many factors. A large number of basic clinical studies have shown that cadherin 23 is a cellular structural protein closely related to the function of the inner ear. In this study, the molecular structure and biological function of cadherin 23 were reviewed, the role of cadherin 23 in hair cell development and its correlation with clinical symptoms were described, and the important role of cadherin 23 in maintaining the morphological and functional integrity of hair cell bundles in the inner ear was revealed. At the same time, the application of different mutation forms of cadherin 23 gene(Cdh23)encoding cadherin 23 in clinical detection was explored, aiming to provide a new direction for early clinical gene diagnosis research of deafness.