Expression patterns of dishevelled-2 in different colon tissue segments in Hirschsprung's disease

Hirschsprung's disease (HSCR) is a congenital disorder characterized by an absence of enteric ganglion cells in the terminal regions of the gut during development. To date, the cause of HSCR remains unclear, although the pathogenesis of this complex disease is hypothesized to be influenced by numerous genetic and environmental factors. Dishevelled‑2 (DVL‑2) is a subtype of the dishevelled protein, which is known to be involved in embryonic development. In the present study, the pathogenesis of HSCR was investigated by measuring the expression of the DVL‑2 gene and protein using reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR), western blotting and immunohistochemistry staining in the aganglionic and ganglionic segments of colonic tissues in patients with HSCR. The results showed that the level of DVL‑2 mRNA in the aganglionic segments was 0.28 fold that of the ganglionic segments. Similarly, the protein expression of DVL‑2 was lower (11.31±2.23) in the aganglionic segments than that of the ganglionic segments (35.21±2.66), as assessed by western blot analysis. Furthermore, immunohistochemical staining demonstrated that DVL‑2 expression was significantly higher in the mucosal and submucosal layers from ganglionic colon segments compared with that from the aganglionic segments. The data suggest that the expression of DVL‑2 in colon tissue segments may be important in the pathogenesis of HSCR.