Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung’s disease

Purpose Smooth muscle cells are electrically coupled to ICC and PDGFRα + cells, to regulate smooth muscle contraction. Recent studies have reported that the voltage-gated sodium channel type 1β ( Scn1b ), and the chloride channel subunit, Fxyd1 , are highly expressed by both ICC and PDGFRα + cells in the mouse colon. We designed this study to investigate the expression of the Scn1b and Fxyd1 genes in the normal human colon and in HSCR. Methods HSCR tissue specimens ( n = 6) were collected at the time of pull-through surgery, while control samples were obtained at the time of colostomy closure in patients with imperforate anus ( n = 6). qRT-PCR analysis was undertaken to quantify Scn1b and Fxyd1 gene expression, and immunolabelling of Scn1b and Fxyd1 proteins were visualized using confocal microscopy. Results qRT-PCR analysis revealed significant downregulation of Scn1b and Fxyd1 genes in both aganglionic and ganglionic HSCR specimens compared to controls ( p