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Pediatr Surg Int. 2013 Jul;29(7):683-8. doi: 10.1007/s00383-013-3308-6. Epub 2013 Apr 12.

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

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  • 1State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing 210029, China.

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.

PMID:
23579558
[PubMed - indexed for MEDLINE]
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