Pediatric Surgery International

, Volume 35, Issue 1, pp 9–14 | Cite as

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

  • Anne Marie O’Donnell
  • Hiroki Nakamura
  • Christian Tomuschat
  • Naoum Fares Marayati
  • Prem PuriEmail author
Original Article



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.


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.


qRT-PCR analysis revealed significant downregulation of Scn1b and Fxyd1 genes in both aganglionic and ganglionic HSCR specimens compared to controls (p < 0.05). Confocal microscopy revealed a reduction in Scn1b and Fxyd1 protein expression in both aganglionic and ganglionic HSCR colon compared to controls.


Scn1b and Fxyd1 expression was significantly downregulated in HSCR colon. These results add to mounting evidence suggesting that the pulled-through ganglionic segment of bowel in these patients is abnormal, despite the presence of ganglion cells.


Scn1b Fxyd1 ICC PDGFRα+ cells Hirschsprung’s disease 


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Anne Marie O’Donnell
    • 1
  • Hiroki Nakamura
    • 1
  • Christian Tomuschat
    • 1
  • Naoum Fares Marayati
    • 2
  • Prem Puri
    • 1
    Email author
  1. 1.National Children’s Research Centre, Our Lady’s Children’s Hospital CrumlinDublin 12Ireland
  2. 2.Department of PsychologyPrinceton UniversityPrincetonUSA

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