Expression of dishevelled gene in Hirschsprung's disease

Int J Clin Exp Pathol. 2013 Aug 15;6(9):1791-8. eCollection 2013.

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.

Materials and 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.

Conclusion: The study showed an association of DVL-1 and DVL-3 with HSCR, it may play an important role in the pathogenesis of HSCR.

Keywords: Hirschsprung’s disease; dishevelled-1 and dishevelled-3; expression; gene and protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / analysis*
  • Adaptor Proteins, Signal Transducing / genetics
  • Blotting, Western
  • Child, Preschool
  • Colon / chemistry*
  • Colon / innervation
  • Dishevelled Proteins
  • Female
  • Gene Expression Regulation
  • Hirschsprung Disease / genetics
  • Hirschsprung Disease / metabolism*
  • Humans
  • Immunohistochemistry
  • Infant
  • Male
  • Phosphoproteins / analysis*
  • Phosphoproteins / genetics
  • RNA, Messenger / analysis
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Adaptor Proteins, Signal Transducing
  • DVL1 protein, human
  • DVL3 protein, human
  • Dishevelled Proteins
  • Phosphoproteins
  • RNA, Messenger