title: Aberrant high expression of NRG1 gene in Hirschsprung disease.
abstract: OBJECTIVE
  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.affiliation: State Key Laboratory of Reproductive Medicine, Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Weibing
authors.initials: W
authors.lastname: Tang
authors.forename: Bo
authors.initials: B
authors.lastname: Li
authors.forename: Xiaoqun
authors.initials: X
authors.lastname: Xu
authors.forename: Zhigang
authors.initials: Z
authors.lastname: Zhou
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.forename: Junwei
authors.initials: J
authors.lastname: Tang
authors.forename: Jingjing
authors.initials: J
authors.lastname: Qin
authors.forename: Qiming
authors.initials: Q
authors.lastname: Geng
authors.forename: Weiwei
authors.initials: W
authors.lastname: Jiang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhang
authors.forename: Jiahao
authors.initials: J
authors.lastname: Sha
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D015153:Blotting, Western; D016022:Case-Control Studies; D019175:DNA Methylation; D005260:Female; D006627:Hirschsprung Disease / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D020890:Neuregulin-1 / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism; D060888:Real-Time Polymerase Chain Reaction; D015854:Up-Regulation
chemical_list: D015415:Biomarkers; C094131:NRG1 protein, human; D020890:Neuregulin-1; D012333:RNA, Messenger