Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
Mol Diagn Ther. 2022 Mar;26(2):129-136. doi: 10.1007/s40291-022-00578-2. Epub 2022 Feb 15.
The feasibility to unravel genetic and genomic signatures for disorders affecting the auditory system has accelerated since arriving in the post-genomics era roughly 20 years ago. Newly emerging studies have provided initial landmarks signaling heritability and thus, a genetic link, to severe tinnitus. Tinnitus, the phantom perception of ringing in the ears, is experienced by at least 15% of the adult population and can be extremely disabling. Despite its ubiquity, there is no cure for tinnitus and modalities offering relief are often of limited success. Because tinnitus is frequently reported in patients with acquired conductive or sensorineural hearing impairment, it has been widely accepted that tinnitus is secondary to and a symptom arising from hearing impairment. However, tinnitus has also been identified in the absence of auditory dysfunction and in young individuals, resulting in a debate about its origins. Genetics studies have identified severe tinnitus as a complex disorder arising from gene and environment interactions, refining its classification as a neurological disorder and, in at least a subset of patients, it appears not as a symptom of another health issue. This current opinion summarizes several recent studies that have challenged a long-accepted dogma and postulates how this information could eventually be used in the future to help patients. It is with great hope that this knowledge opens translational paths to provide relief for the many who suffer from the burden of tinnitus on a daily basis.
自大约 20 年前进入后基因组时代以来，揭示影响听觉系统的疾病的遗传和基因组特征的可行性已经加快。新出现的研究为重度耳鸣的遗传性提供了初步的遗传标志，因此存在遗传联系。耳鸣是耳朵里出现嗡嗡声的幻觉，至少有 15%的成年人经历过，而且可能会非常致残。尽管耳鸣很常见，但目前尚无治愈方法，而提供缓解的方法往往效果有限。由于耳鸣经常在获得性传导性或感音神经性听力损伤的患者中报告，因此人们普遍认为耳鸣是听力损伤的继发症状。然而，在没有听觉功能障碍和年轻人中也发现了耳鸣，这引发了关于其起源的争论。遗传研究已经确定重度耳鸣是一种由基因和环境相互作用引起的复杂疾病，将其分类为神经障碍，并且在至少一部分患者中，它似乎不是另一种健康问题的症状。本综述总结了几项最近的研究，这些研究挑战了长期以来的一个公认观点，并假设这些信息将来如何最终用于帮助患者。人们非常希望这些知识能够开辟转化途径，为每天遭受耳鸣负担的许多人提供缓解。
