title: Expression of dishevelled gene in Hirschsprung's disease.
abstract: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system and is characterized by an absence of enteric ganglion cells in terminal regions of the gut during development. Dishevelled (DVL) protein is a cytoplasmic protein which plays pivotal roles in the embryonic development. In this study, we explore the cause of HSCR by studying the expression of DVL-1 and DVL-3 genes and their proteins in the aganglionic segment and the ganglionic segment of colon in HSCR patients.
  
  
  METHODS
  Specimen of aganglionic segment and ganglionic segment of colon in 50 cases of HSCR patients. Expression levels of mRNA and proteins of DVL-1 and DVL-3 were confirmed by quantitative real-time PCR (qRT-PCR), western blot and immunohistochemistry staining between the aganglionic segment and the ganglionic segment of colon in HSCR patients.
  
  
  RESULTS
  The mRNA expression of DVL-1 and DVL-3 were 2.06 fold and 3.12 fold in the aganglionic segment colon tissues compared to the ganglionic segment, respectively. Similarly, the proteins expression of DVL-1 and DVL-3 were higher (39.71 ± 4.53 vs and 53.90 ± 6.79 vs) in the aganglionic segment colon tissues than in the ganglionic segment (15.01 ± 2.66 and 20.13 ± 3.63) by western blot. Besides, immunohistochemical staining showed that DVL-1 and DVL-3 have a significant increase in mucous and submucous layers from aganglionic colon segments compared with ganglionic segments.
  
  
  CONCLUSIONS
  The study showed an association of DVL-1 and DVL-3 with HSCR, it may play an important role in the pathogenesis of HSCR.
authors.affiliation: Department of Pediatric Surgery, Shengjing Hospital of China Medical University Liaoning, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Chen
authors.forename: Jie
authors.initials: J
authors.lastname: Mi
authors.forename: Mei
authors.initials: M
authors.lastname: Wu
authors.forename: Weilin
authors.initials: W
authors.lastname: Wang
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000032:analysis* / Q000235:genetics; D015153:Blotting, Western; D002675:Child, Preschool; D003106:Colon / Q000737:chemistry* / Q000294:innervation; D000072261:Dishevelled Proteins; D005260:Female; D005786:Gene Expression Regulation; D006627:Hirschsprung Disease / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D010750:Phosphoproteins / Q000032:analysis* / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C000606578:DVL1 protein, human; C000606584:DVL3 protein, human; D000072261:Dishevelled Proteins; D010750:Phosphoproteins; D012333:RNA, Messenger
keywords: Hirschsprung’s disease; dishevelled-1 and dishevelled-3; expression; gene and protein
references.citation: J Pediatr Surg. 2011 Oct;46(10):1930-4
references.pmid: 22008330
references.citation: Pediatr Surg Int. 2005 Apr;21(4):255-63
references.pmid: 15759143
references.citation: Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2813-8
references.pmid: 21282632
references.citation: Dev Dyn. 1996 Nov;207(3):253-62
references.pmid: 8922524
references.citation: Nat Rev Neurosci. 2007 Jun;8(6):466-79
references.pmid: 17514199
references.citation: Anat Rec (Hoboken). 2012 Oct;295(10):1628-38
references.pmid: 22815266
references.citation: Cell Signal. 2010 May;22(5):717-27
references.pmid: 20006983
references.citation: Eur J Pediatr Surg. 2008 Jun;18(3):140-9
references.pmid: 18493886
references.citation: Nature. 2005 Apr 14;434(7035):857-63
references.pmid: 15829955
references.citation: Hum Mol Genet. 1993 Nov;2(11):1803-8
references.pmid: 7904208
references.citation: Zhonghua Wei Chang Wai Ke Za Zhi. 2010 Oct;13(10):758-61
references.pmid: 20972907
references.citation: Genes Brain Behav. 2004 Feb;3(1):51-62
references.pmid: 14960015
references.citation: Cancer Res. 2011 Dec 1;71(23):7280-90
references.pmid: 21990322
references.citation: Proc Natl Acad Sci U S A. 2012 Jul 17;109(29):11717-22
references.pmid: 22753465
references.citation: Nat Genet. 1996 Nov;14(3):341-4
references.pmid: 8896568
references.citation: Genet Med. 2010 Jan;12(1):39-43
references.pmid: 20009762
references.citation: Methods. 2001 Dec;25(4):402-8
references.pmid: 11846609
references.citation: Nat Cell Biol. 2007 Jul;9(7):743-54
references.pmid: 17558396
references.citation: Dev Cell. 2012 Jan 17;22(1):223-32
references.pmid: 22264734