Methylation analysis of EDNRB in human colon tissues of Hirschsprung's disease.

IF 1.5 3区医学 Q2 PEDIATRICS

Pediatric Surgery International Pub Date : 2013-07-01 Epub Date: 2013-04-12 DOI:10.1007/s00383-013-3308-6

Weibing Tang, Bo Li, Junwei Tang, Kang Liu, Jingjing Qin, Wei Wu, Qiming Geng, Jie Zhang, Huan Chen, Xiaoqun Xu, Yankai Xia

{"title":"Methylation analysis of EDNRB in human colon tissues of Hirschsprung's disease.","authors":"Weibing Tang, Bo Li, Junwei Tang, Kang Liu, Jingjing Qin, Wei Wu, Qiming Geng, Jie Zhang, Huan Chen, Xiaoqun Xu, Yankai Xia","doi":"10.1007/s00383-013-3308-6","DOIUrl":null,"url":null,"abstract":"Purpose: Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. The endothelin receptor type B (EDNRB) gene has been localized to the chromosome 13q22 region and encodes a G-protein coupled receptor, is generally accepted as a crucial gene for HSCR. This study is to identify the epigenetic changes of EDNRB in the pathogenesis of HSCR.Methods: We investigated the expression levels of EDNRB in 58 HSCR patients and 25 unrelated controls, using reverse transcriptase polymerase chain reaction (RT-PCR) and western blot assay. Moreover, using the methylation-specific polymerase chain reaction, we examined the methylation status of the promoter region of EDNRB.Results: Aberrant high expression level of EDNRB was detected in HSCR patients compared with the control group (P = 0.023). Besides, western blot assay confirmed the up-regulation of EDNRB in the post transcription level in the aganglionosis segment of HSCR patients. Furthermore, there was a significantly lower ratio of methylation level of EDNRB in HSCR.Conclusions: Our study demonstrates that epigenetic inactivation of the EDNRB gene may play a role in the development of HSCR.","PeriodicalId":19832,"journal":{"name":"Pediatric Surgery International","volume":"29 7","pages":"683-8"},"PeriodicalIF":1.5000,"publicationDate":"2013-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s00383-013-3308-6","citationCount":"21","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Surgery International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00383-013-3308-6","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2013/4/12 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 21

Abstract

Purpose: Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system in a variable portion of the distal gut. The endothelin receptor type B (EDNRB) gene has been localized to the chromosome 13q22 region and encodes a G-protein coupled receptor, is generally accepted as a crucial gene for HSCR. This study is to identify the epigenetic changes of EDNRB in the pathogenesis of HSCR.

Methods: We investigated the expression levels of EDNRB in 58 HSCR patients and 25 unrelated controls, using reverse transcriptase polymerase chain reaction (RT-PCR) and western blot assay. Moreover, using the methylation-specific polymerase chain reaction, we examined the methylation status of the promoter region of EDNRB.

Results: Aberrant high expression level of EDNRB was detected in HSCR patients compared with the control group (P = 0.023). Besides, western blot assay confirmed the up-regulation of EDNRB in the post transcription level in the aganglionosis segment of HSCR patients. Furthermore, there was a significantly lower ratio of methylation level of EDNRB in HSCR.

Conclusions: Our study demonstrates that epigenetic inactivation of the EDNRB gene may play a role in the development of HSCR.

查看原文本刊更多论文

巨结肠病患者结肠组织中EDNRB的甲基化分析。

目的:巨结肠病(HSCR)的特点是在远端肠道的可变部分缺乏肠神经系统。内皮素受体B型(EDNRB)基因定位于染色体13q22区域，编码一个g蛋白偶联受体，被普遍认为是HSCR的关键基因。本研究旨在确定EDNRB在HSCR发病机制中的表观遗传变化。方法:采用逆转录聚合酶链式反应(RT-PCR)和western blot方法，研究了58例HSCR患者和25例无关对照组中EDNRB的表达水平。此外，利用甲基化特异性聚合酶链反应，我们检测了EDNRB启动子区域的甲基化状态。结果:与对照组相比，HSCR患者中EDNRB异常高表达(P = 0.023)。此外，western blot检测证实了HSCR患者神经节段EDNRB转录后水平上调。此外，HSCR中EDNRB的甲基化水平比例显著降低。结论:我们的研究表明，EDNRB基因的表观遗传失活可能在HSCR的发生中起作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Pediatric Surgery International 医学-外科

CiteScore

3.00

自引率

5.60%

发文量

215

审稿时长

3-6 weeks

期刊介绍： Pediatric Surgery International is a journal devoted to the publication of new and important information from the entire spectrum of pediatric surgery. The major purpose of the journal is to promote postgraduate training and further education in the surgery of infants and children. The contents will include articles in clinical and experimental surgery, as well as related fields. One section of each issue is devoted to a special topic, with invited contributions from recognized authorities. Other sections will include: -Review articles- Original articles- Technical innovations- Letters to the editor