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Aberrant high expression of NRG1 gene in Hirschsprung disease.
MedLine Citation:
PMID:  22974608     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
BACKGROUND/PURPOSE: Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells along with variable lengths of the gastrointestinal tract. Recent studies have indicated the potential function of neuregulin-1 (NRG1) in HSCR, which encodes the heregulins and other mitogenic ligands for the ErbB family. The purpose of this study was to further clarify the role of NRG1 in the pathogenesis of HSCR.
METHODS: We examined the NRG1 messenger RNA (messenger RNA) and protein expression levels in gut tissues of 63 patients with sporadic HSCR (both stenotic and dilated gut tissues) and 35 controls. Moreover, using the methylation-specific polymerase chain reaction, we examined the methylation pattern of exon 1 of the NRG1 gene.
RESULTS: The mRNA expression levels of NRG1 were significantly higher in tissues of HSCR than those in controls, and the increased NRG1 protein levels in HSCR were consistent with the mRNA levels. However, no methylation pattern change was observed in exon 1 of the gene among different groups.
CONCLUSIONS: Our study demonstrates that the aberrant expression of NRG1 may play an important role in the pathology of HSCR. DNA methylation of the gene seems not to be involved in the mechanism of such aberrant expression, and other factors should be explored.
Authors:
Weibing Tang; Bo Li; Xiaoqun Xu; Zhigang Zhou; Wei Wu; Junwei Tang; Jingjing Qin; Qiming Geng; Weiwei Jiang; Jie Zhang; Jiahao Sha; Yankai Xia; Xinru Wang
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric surgery     Volume:  47     ISSN:  1531-5037     ISO Abbreviation:  J. Pediatr. Surg.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-09-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0052631     Medline TA:  J Pediatr Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1694-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing 210029, China; Department of Pediatric Surgery, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210029, China.
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