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

Abstract

To investigate whether the expression of platelet-derived growth factor receptor-α-positive (PDGFRα(+))-cells is altered in Hirschsprung's disease (HD). 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 PDGFRα(+)-cells was visualized using confocal microscopy to assess the distribution of these cells, while Western blot analysis was undertaken to quantify PDGFRα protein expression. Confocal microscopy revealed PDGFRα(+)-cells within the mucosa, myenteric plexus and smooth muscle in normal controls, with a marked reduction in PDGFRα(+)-cells in the HD specimens. Western blotting revealed high levels of PDGFRα protein expression in normal controls, while there was a striking decrease in PDGFRα protein expression in the HD colon. These findings suggest that the altered distribution of PDGFRα(+)-cells in both the aganglionic and ganglionic HD bowel may contribute to the motility dysfunction in HD.