Pediatric Surgery International

, Volume 35, Issue 2, pp 193–197 | Cite as

Altered expression of KCNG3 and KCNG4 in Hirschsprung’s disease

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



Voltage-gated potassium ion channels have long been implicated in gastrointestinal motility. Recent studies have highlighted the role of voltage-gated channel subfamily G member 3 (KCNG3) and 4 (KCNG4) genes in the electrical functioning of interstitial cells of Cajal and PDGFRα+ cells of the mouse colon. We designed this study to investigate KCNG3 and KCNG4 expression in the normal human colon and in Hirschsprung’s disease (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 KCNG3 and KCNG4 gene expression, and immunolabelling of KCNG3 and KCNG4 proteins was visualized using confocal microscopy.


qRT-PCR analysis revealed significant downregulation of the KCNG3 and KCNG4 genes in both aganglionic and ganglionic HSCR specimens compared to controls (p < 0.05). Confocal microscopy revealed KCNG3 and KCNG4 expression within neurons, ICC and PDGFRα+ cells of the myenteric plexus and smooth muscle layers, with a reduction in both proteins in aganglionic and ganglionic HSCR colon compared to controls.


KCNG3 and KCNG4 gene expression is significantly downregulated in HSCR colon, suggesting a role for these genes in colonic motility. KCNG3 and KCNG4 downregulation within ganglionic specimens highlights the physiologically abnormal nature of this segment in HSCR patients.


KCNG3 KCNG4 Enteric nervous system 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
    • 1
  • Prem Puri
    • 1
    Email author
  1. 1.National Children’s Research CentreOur Lady’s Children’s Hospital CrumlinDublin 12Ireland

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