ENT institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, Shanghai, China.
NHC Key Laboratory of Hearing Medicine, Fudan University, Shanghai, China.
Clin Otolaryngol. 2021 Jul;46(4):823-833. doi: 10.1111/coa.13748. Epub 2021 Mar 12.
To identify genes that are related to delayed endolymphatic hydrops (DEH) in patients by RNA-Seq analysis.
Observational study.
Eye & ENT Hospital, Fudan University (Shanghai, China).
We collected the entire vestibular system from four patients with DEH who underwent labyrinthectomy. Three control samples were collected from patients with acoustic neuroma or facial neuroma treated via the translabyrinthine approach. High-throughput RNA-Seq analysis was performed to investigate gene expression in the pathological vestibular system.
Our bioinformatic analysis identified 17 genes that were upregulated and eight genes that were downregulated in patients with DEH compared with the controls.
The altered gene expression profile suggested that DEH is closely related to neuropathy and autoimmune disease. In addition, many of the differentially regulated genes were involved in cell adhesion, suggesting a role of cell adhesion in DEH. Immunofluorescence analysis confirmed the expression of PMP2 and CLDN19 in the cytoplasm of hair cells and scattered expression of MPZ at cell junctions. The protein expression levels were higher in specimens from patients with Ménière's disease and DEH compared with controls.
The protein expression profile of vestibular organs in patients with endolymphatic hydrops exhibited a degree of similarity to that of Ménière's disease. Endolymphatic hydrops is characterised by autoimmune abnormalities. DEH and Ménière's disease are likely to be different manifestations of the same disease, with disparate clinical symptoms. RNA-Seq is a useful analytical tool to characterise the vestibular pathology based on its transcriptome.
通过 RNA-Seq 分析鉴定与患者迟发性内淋巴积水 (DEH) 相关的基因。
观察性研究。
复旦大学附属眼耳鼻喉科医院（中国上海）。
我们从接受迷路切除术的 4 例 DEH 患者中收集了整个前庭系统。从通过经迷路入路治疗的听神经瘤或面神经瘤患者中收集了 3 个对照样本。进行高通量 RNA-Seq 分析以研究病理性前庭系统中的基因表达。
我们的生物信息学分析鉴定出 17 个在 DEH 患者中上调的基因和 8 个下调的基因与对照组相比。
改变的基因表达谱表明 DEH 与神经病和自身免疫性疾病密切相关。此外，许多差异调节基因参与细胞黏附，提示细胞黏附在 DEH 中的作用。免疫荧光分析证实了 PMP2 和 CLDN19 在毛细胞细胞质中的表达以及 MPZ 在细胞连接处的散在表达。与对照组相比，梅尼埃病和 DEH 患者标本中的蛋白表达水平更高。
内淋巴积水患者前庭器官的蛋白表达谱与梅尼埃病具有一定的相似性。内淋巴积水的特征是自身免疫异常。DEH 和梅尼埃病可能是同一疾病的不同表现，临床表现不同。RNA-Seq 是一种基于转录组特征描述前庭病理学的有用分析工具。
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