Department of Otolaryngology, Harvard Medical School, Boston, MA, USA; Eaton Peabody Laboratories and Department of Otolaryngology, Massachusetts Eye and Ear, Boston, MA, USA; University of California San Diego School of Medicine, San Diego, CA, USA.
Department of Otolaryngology, Harvard Medical School, Boston, MA, USA; Eaton Peabody Laboratories and Department of Otolaryngology, Massachusetts Eye and Ear, Boston, MA, USA; Program in Speech and Hearing Bioscience and Technology, Harvard Medical School, Boston, MA, USA; Wellman Center for Photomedicine, Massachusetts General Hospital, Boston, MA, USA.
Hear Res. 2019 Oct;382:107785. doi: 10.1016/j.heares.2019.107785. Epub 2019 Aug 19.
Sensorineural hearing loss (SNHL) is an extraordinarily common disability, affecting 466 million people across the globe. Half of these incidents are attributed to genetic mutations that disrupt the structure and function of the cochlea. The human cochlea's interior cannot be imaged or biopsied without damaging hearing; thus, everything known about the morphologic correlates of hereditary human deafness comes from histopathologic studies conducted in either cadaveric human temporal bone specimens or animal models of genetic deafness. The purpose of the present review is to a) summarize the findings from all published histopathologic studies conducted in human temporal bones with known SNHL-causing genetic mutations, and b) compare the reported phenotypes of human vs. mouse SNHL caused by the same genetic mutation. The fact that human temporal bone histopathologic analysis has been reported for only 22 of the nearly 200 identified deafness-causing genes suggests a great need for alternative and improved techniques for studying human hereditary deafness; in light of this, the present review concludes with a summary of promising future directions, specifically in the fields of high resolution cochlear imaging, intracochlear fluid biopsy, and gene therapy.
感音神经性听力损失（SNHL）是一种非常常见的残疾，影响全球 4.66 亿人。这些事件中有一半归因于基因突变，这些突变会破坏耳蜗的结构和功能。如果不损害听力，人类耳蜗的内部就无法成像或活检；因此，关于遗传性人类耳聋的形态学相关性的所有知识都来自于对尸检人类颞骨标本或遗传性耳聋动物模型进行的组织病理学研究。本综述的目的是：a）总结所有已发表的关于具有已知 SNHL 致病基因突变的人类颞骨进行的组织病理学研究的结果，b）比较由相同基因突变引起的人类和小鼠 SNHL 的报告表型。事实上，只有近 200 个已知的致聋基因中的 22 个已经报道了人类颞骨组织病理学分析，这表明非常需要替代和改进的技术来研究人类遗传性耳聋；有鉴于此，本综述最后总结了有前途的未来方向，特别是在高分辨率耳蜗成像、耳蜗内液活检和基因治疗领域。
