Weibing Tang, Bo Li, Junwei Tang, Kang Liu, Jingjing Qin, Wei Wu, Qiming Geng, Jie Zhang, Huan Chen, Xiaoqun Xu, Yankai Xia
{"title":"巨结肠病患者结肠组织中EDNRB的甲基化分析。","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":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>Our study demonstrates that epigenetic inactivation of the EDNRB gene may play a role in the development of HSCR.</p>","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":"{\"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\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>Our study demonstrates that epigenetic inactivation of the EDNRB gene may play a role in the development of HSCR.</p>\",\"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}","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}
Methylation analysis of EDNRB in human colon tissues of Hirschsprung's disease.
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.
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
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