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- Title
Methylation analysis of EDNRB in human colon tissues of Hirschsprung's disease.
- Authors
Tang, Weibing; Li, Bo; Tang, Junwei; Liu, Kang; Qin, Jingjing; Wu, Wei; Geng, Qiming; Zhang, Jie; Chen, Huan; Xu, Xiaoqun; Xia, Yankai
- 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.
- Subjects
HIRSCHSPRUNG'S disease; METHYLATION; ENDOTHELIN receptors; REVERSE transcriptase polymerase chain reaction; GENE expression; GENETIC regulation; EPIGENETICS
- Publication
Pediatric Surgery International, 2013, Vol 29, Issue 7, p683
- ISSN
0179-0358
- Publication type
Article
- DOI
10.1007/s00383-013-3308-6