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.