Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.
Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.
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DOI：
10.47895/amp.v57i9.5200
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发表时间：
2023-09
影响因子：
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通讯作者：
Angelo Augusto Sumalde;Ivana Yang;T. K. Yarza;C. A. Tobias-Grasso;M. L. C. Tantoco;Elizabeth Davidson;Abner L. Chan;M. Azamian;Teresa Luisa Cruz;S. Lalani;M. T. Reyes-Quintos;E. M. Cutiongco-de la Paz;R. Santos-Cortez;Charlotte Chiong
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文献类型：
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作者：
Angelo Augusto Sumalde;Ivana Yang;T. K. Yarza;C. A. Tobias-Grasso;M. L. C. Tantoco;Elizabeth Davidson;Abner L. Chan;M. Azamian;Teresa Luisa Cruz;S. Lalani;M. T. Reyes-Quintos;E. M. Cutiongco-de la Paz;R. Santos-Cortez;Charlotte Chiong
目的表观遗传学研究的最新进展不断揭示新的基因调控机制，但表观遗传学在人类感音神经性听力损失（SNHL）中的作用尚不清楚。我们的目的是调查两个区域的甲基化模式，一个在RB 1和另一个在GJB 2在菲律宾SNHL患者相比，听力控制个人。方法我们研究了RB 1启动子区域，该区域先前被鉴定为SNHL和铅暴露儿童中的差异甲基化。此外，我们研究了GJB 2内增强子样区域中的一个序列，该区域包含四个紧邻的CpG。对15名SNHL儿童和45名无关种族匹配个体的唾液DNA样本进行亚硫酸氢盐转化。然后，我们使用TaqMan®探针进行甲基化特异性实时PCR分析（qMSP）以确定两个区域的甲基化百分比。结果使用qMSP，我们的病例和对照在靶向GJB 2和RB 1区域均为零甲基化。结论SNHL患者RB 1和GJB 2的甲基化水平无明显变化。这可能是由于这些目标区域缺乏环境暴露。其他表观遗传标记可能存在于这些区域周围，以及其他HL相关基因的表观遗传标记。
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 RB1 and another in GJB2 in Filipino patients with SNHL compared to hearing control individuals. Methods We investigated an RB1 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 GJB2 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 GJB2 and RB1 regions. Conclusion Our study showed no changes in methylation at the selected CpG regions in RB1 and GJB2 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.