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The impact of down-regulated SK3 expressions on Hirschsprung disease

Gunadi1, Mukhamad Sunardi2, Nova Yuli Prasetyo Budi2

  • 1Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia. drgunadi@ugm.ac.id.

BMC Medical Genetics
|February 15, 2018
PubMed

Insights

Hirschsprung's disease (HSCR) patients with persistent bowel issues after surgery show lower small-conductance calcium-activated potassium channel 3 (SK3) expression. This finding in an Indonesian population suggests SK3's role in HSCR post-operative symptoms.

Area of Science:

  • Gastroenterology
  • Molecular Biology
  • Genetics

Background:

  • Hirschsprung's disease (HSCR) can lead to persistent bowel symptoms post-surgery.
  • Down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in HSCR ganglionic intestines is a suspected mechanism.
  • Investigating SK3 expression in an Indonesian HSCR population is crucial due to potential genetic distinctiveness.

Purpose of the Study:

  • To investigate the impact of SK3 expression in Indonesian HSCR patients after pull-through surgery.
  • To compare SK3 gene expression levels between HSCR patients and controls.

Main Methods:

  • Quantitative real-time polymerase chain reaction (RT-PCR) was used to assess SK3 gene expression.
  • SK3 expression was measured in both ganglionic and aganglionic colon tissues of HSCR patients and controls.
  • Fourteen sporadic HSCR patients and six anorectal malformation patients (controls) were included.

Main Results:

  • SK3 expression was significantly lower (23-fold) in the ganglionic colon of HSCR patients compared to controls (9.9 ± 4.6 vs. 5.4 ± 3.4; p=0.044).
  • SK3 expression was also significantly lower (43-fold) in the aganglionic colon of HSCR patients compared to controls (10.8 ± 4.4 vs. 5.4 ± 3.4; p=0.015).

Conclusions:

  • Down-regulated SK3 expression in ganglionic intestines may contribute to persistent bowel symptoms in Indonesian HSCR patients post-surgery.
  • This study provides the first report on SK3 expression in an Asian population sample.
  • Findings highlight SK3 as a potential factor in HSCR pathophysiology and treatment outcomes.
Abstract

Keywords:
Appropriate pull-throughHirschsprung diseaseIndonesiaPersistent bowel symptomsSK3

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