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Int J Clin Exp Pathol 2013;6(9):1791-1798

Original Article
Expression of dishevelled gene in Hirschsprung’s disease

Dong Chen, Jie Mi, Mei Wu, Weilin Wang, Hong Gao

Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Liaoning, China; Key Laboratory of Pediatric Congenital
Malformations, Ministry of Public Health, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China

Received July 15, 2013; Accepted July 25, 2013; Epub August 15, 2013; Published September 1, 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. (IJCEP1307024).

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

Address correspondence to: Dr. Hong Gao, Key Laboratory of Pediatric Congenital Malformations, Ministry of Public Health, Shengjing
Hospital of China Medical University, Shenyang, Liaoning, China. E-mail: gaoh@sj-hospital.org