Deficiency of platelet-derived growth factor receptor-α-positive cells in Hirschsprung's disease colon

AIM: To investigate whether the expression of platelet-derived growth factor receptor-alpha-positive (PDGFR alpha(+))-cells is altered in Hirschsprung's disease (HD). METHODS: HD tissue specimens (n = 10) were collected at the time of pull-through surgery, while colonic control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 10). Immunolabelling of PDGFR alpha(+)-cells was visualized using confocal microscopy to assess the distribution of these cells, while Western blot analysis was undertaken to quantify PDGFR alpha protein expression. RESULTS: Confocal microscopy revealed PDGFR alpha(+)-cells within the mucosa, myenteric plexus and smooth muscle in normal controls, with a marked reduction in PDGFR alpha(+)-cells in the HD specimens. Western blotting revealed high levels of PDGFR alpha protein expression in normal controls, while there was a striking decrease in PDGFR alpha protein expression in the HD colon. CONCLUSION: These findings suggest that the altered distribution of PDGFR alpha(+)-cells in both the aganglionic and ganglionic HD bowel may contribute to the motility dysfunction in HD.