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01.07.2013 | Original Article

Methylation analysis of EDNRB in human colon tissues of Hirschsprung’s disease

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

Erschienen in: Pediatric Surgery International | Ausgabe 7/2013

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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.

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Titel: Methylation analysis of EDNRB in human colon tissues of Hirschsprung’s disease
verfasst von: Weibing Tang
Bo Li
Junwei Tang
Kang Liu
Jingjing Qin
Wei Wu
Qiming Geng
Jie Zhang
Huan Chen
Xiaoqun Xu
Yankai Xia
Publikationsdatum: 01.07.2013
Verlag: Springer-Verlag
Erschienen in: Pediatric Surgery International / Ausgabe 7/2013
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-013-3308-6

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Methylation analysis of EDNRB in human colon tissues of Hirschsprung’s disease

Abstract

Purpose

Methods

Results

Conclusions

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

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