Meniere's Disease Neuroscience Research Program, Faculty of Medicine & Health, School of Medical Sciences, The Kolling Institute, The University of Sydney, Sydney, New South Wales, Australia.
Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/Junta de Andalucía, PTS.
Curr Opin Neurol. 2024 Feb 1;37(1):88-94. doi: 10.1097/WCO.0000000000001227. Epub 2023 Oct 20.
This review discusses the recent developments on the understanding of epidemiology and genetics of Meniere's disease.
Meniere's disease has been shown to be associated with several comorbidities, such as migraine, anxiety, allergy and immune disorders. Recent studies have investigated the relationship between environmental factors and Meniere's disease such as air pollution, allergy, asthma, osteoporosis or atmospheric pressure, reporting specific comorbidities in East Asian population. The application of exome sequencing has enabled the identification of genes sharing rare missense variants in multiple families with Meniere's disease, including OTOG and TECTA and suggesting digenic inheritance in MYO7A . Moreover, knockdown of DTNA gene orthologue in Drosophila resulted in defective proprioception and auditory function. DTNA and FAM136A knockout mice have been studied as potential mouse models for Meniere's disease.
While it has attracted emerging attention in recent years, the study of Meniere's disease genetics is still at its early stage. More geographically and ethnically based human genome studies, and the development of cellular and animal models of Meniere's disease may help shed light on the molecular mechanisms of Meniere's disease and provide the potential for gene-specific therapies.
本文讨论了梅尼埃病的流行病学和遗传学研究的最新进展。
梅尼埃病与多种合并症相关，如偏头痛、焦虑、过敏和免疫紊乱。最近的研究调查了环境因素与梅尼埃病的关系，如空气污染、过敏、哮喘、骨质疏松或气压，报告了东亚人群的特定合并症。外显子组测序的应用使我们能够识别多个梅尼埃病家系中共享罕见错义变异的基因，包括 OTOG 和 TECTA，并提示 MYO7A 中的双基因遗传。此外，在果蝇中敲低 DTNA 基因的同源物导致本体感觉和听觉功能缺陷。DTNA 和 FAM136A 敲除小鼠已被研究作为梅尼埃病的潜在小鼠模型。
尽管近年来受到了越来越多的关注，但梅尼埃病遗传学的研究仍处于早期阶段。更多基于地理位置和种族的人类基因组研究，以及梅尼埃病的细胞和动物模型的发展，可能有助于揭示梅尼埃病的分子机制，并为特定基因的治疗提供可能性。
