Moser Tobias
Institut für Auditorische Neurowissenschaften, Universitätsmedizin Göttingen.
Laryngorhinootologie. 2018 Mar;97(S 01):S214-S230. doi: 10.1055/s-0043-121595. Epub 2018 Mar 22.
This review addresses the advances of our molecular understanding of hearing and how this benefits the hearing impaired. Classical biochemical methods usually fall short in contributing to the analysis of the molecular mechanisms of hearing e. g. in the cochlea, the auditory part of the inner ear, due to the scarcity of the cells of interest. Genetics, molecular cell biology, and physiology, on the other hand, have elucidated the intricate molecular and cellular mechanisms that bring about the outstanding performance of the auditory system. Many of those mechanisms are quite unique and specialized to serve the specific needs of hearing. Hence, their defects often spare other organs and lead to specific non-syndromic deafness. High throughput sequencing can reveal causes of sporadic deafness when combined with careful bioinformatics. Molecular approaches are also helpful for understanding more common forms of hearing impairment such as noise-induced hearing impairment. While molecular therapies are not yet clinically available, careful molecular genetic analysis helps to counsel the hearing impaired subjects.
本综述阐述了我们在听力分子理解方面取得的进展，以及这如何造福听力受损者。由于感兴趣的细胞稀缺，经典生化方法通常不足以分析听力的分子机制，例如在内耳的听觉部分耳蜗中。另一方面，遗传学、分子细胞生物学和生理学已经阐明了导致听觉系统卓越性能的复杂分子和细胞机制。其中许多机制非常独特且专门用于满足听力的特定需求。因此，它们的缺陷通常不会影响其他器官，并导致特定的非综合征性耳聋。高通量测序与仔细的生物信息学相结合时，可以揭示散发性耳聋的病因。分子方法也有助于理解更常见的听力障碍形式，如噪声性听力损失。虽然分子疗法尚未临床应用，但仔细的分子遗传学分析有助于为听力受损者提供咨询。
