梅尼埃病的流行病学和遗传学。

IF 4.1 2区 医学 Q1 CLINICAL NEUROLOGY
Current Opinion in Neurology Pub Date : 2024-02-01 Epub Date: 2023-10-20 DOI:10.1097/WCO.0000000000001227
Jose A Lopez-Escamez, Ying Liu
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引用次数: 0

摘要

综述目的:本综述讨论了梅尼埃病流行病学和遗传学的最新进展。最近的发现:梅尼埃病已被证明与几种合并症有关,如偏头痛、焦虑、过敏和免疫障碍。最近的研究调查了环境因素与梅尼埃病之间的关系,如空气污染、过敏、哮喘、骨质疏松症或大气压力,报告了东亚人群中的特定合并症。外显子组测序的应用使梅尼埃病多个家族中共享罕见错义变体的基因得以鉴定,包括OTOG和TECTA,并表明MYO7A具有双基因遗传。此外,果蝇DTNA基因同源物的敲除导致本体感觉和听觉功能的缺陷。DTNA和FAM136A敲除小鼠已被研究为梅尼埃病的潜在小鼠模型。综述:虽然近年来梅尼埃病引起了人们的关注,但对梅尼埃氏病遗传学的研究仍处于早期阶段。更多基于地理和种族的人类基因组研究,以及梅尼埃病细胞和动物模型的开发,可能有助于阐明梅尼埃疾病的分子机制,并为基因特异性治疗提供潜力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epidemiology and genetics of Meniere's disease.

Purpose of review: This review discusses the recent developments on the understanding of epidemiology and genetics of Meniere's disease.

Recent findings: 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.

Summary: 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.

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来源期刊
Current Opinion in Neurology
Current Opinion in Neurology 医学-临床神经学
CiteScore
8.60
自引率
0.00%
发文量
174
审稿时长
6-12 weeks
期刊介绍: ​​​​​​​​Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.
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