感音神经性听力损失的人工耳蜗植入患者的和非编码区缺乏甲基化变化。

Lack of Methylation Changes in and Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.

作者信息

Sumalde Angelo Augusto M, Yang Ivana V, Yarza Talitha Karisse L, Tobias-Grasso Celina Ann M, Tantoco Ma Leah C, Davidson Elizabeth, Chan Abner L, Azamian Mahshid S, Cruz Teresa Luisa G, Lalani Seema R, Reyes-Quintos Maria Rina T, Cutiongco-de la Paz Eva Maria, Santos-Cortez Regie Lyn P, Chiong Charlotte M

机构信息

College of Medicine, University of the Philippines Manila, Manila, Philippines.

Department of Otolaryngology - Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus (CU-AMC), Aurora, Colorado, USA.

出版信息

Acta Med Philipp. 2023 Sep 28;57(9):116-120. doi: 10.47895/amp.v57i9.5200.

DOI:10.47895/amp.v57i9.5200

PMID:37990697

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10662870/

Abstract

OBJECTIVE

Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in and another in in Filipino patients with SNHL compared to hearing control individuals.

METHODS

We investigated an promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure. Additionally, we investigated a sequence in an enhancer-like region within that contains four CpGs in close proximity. Bisulfite conversion was performed on salivary DNA samples from 15 children with SNHL and 45 unrelated ethnically-matched individuals. We then performed methylation-specific real-time PCR analysis (qMSP) using TaqMan probes to determine percentage methylation of the two regions.

RESULTS

Using qMSP, both our cases and controls had zero methylation at the targeted and regions.

CONCLUSION

Our study showed no changes in methylation at the selected CpG regions in and in the two comparison groups with or without SNHL. This may be due to a lack of environmental exposures to these target regions. Other epigenetic marks may be present around these regions as well as those of other HL-associated genes.

摘要

目的

表观遗传学研究的最新进展不断揭示基因调控的新机制，但关于表观遗传学在人类感音神经性听力损失（SNHL）中的作用知之甚少。我们旨在研究菲律宾SNHL患者与听力正常对照个体相比，两个区域的甲基化模式，一个区域在[具体位置1]，另一个区域在[具体位置2]。

方法

我们研究了一个[基因名称]启动子区域，该区域先前被确定在SNHL儿童和铅暴露儿童中存在差异甲基化。此外，我们还研究了[具体基因]内一个类似增强子区域的一段序列，该序列包含四个紧密相邻的CpG。对15名SNHL儿童和45名种族匹配的无关个体的唾液DNA样本进行亚硫酸氢盐转化。然后使用TaqMan探针进行甲基化特异性实时PCR分析（qMSP），以确定这两个区域的甲基化百分比。