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BMC Medical Genetics

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Open Access 01-12-2018 | Research article

The impact of down-regulated SK3 expressions on Hirschsprung disease

Authors: Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro

Published in: BMC Medical Genetics | Issue 1/2018

Abstract

Background

Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression’s impact in HSCR patients after a properly performed pull-through surgery in an Indonesian population, a genetically distinct group within Asia.

Methods

We assessed SK3 gene expression in both the ganglionic and aganglionic colon of HSCR patients and controls colon by quantitative real-time polymerase chain reaction (RT-PCR).

Results

We ascertained fourteen sporadic HSCR patients and six anorectal malformation patients as controls. Quantitative RT-PCR showed that the SK3 expression was significantly lower (23-fold) in the ganglionic colon group compared to the control group (9.9 ± 4.6 vs. 5.4 ± 3.4; p = 0.044). The expression of SK3 in the aganglionic colon group was also significantly lower (43-fold) compared to the control group (10.8 ± 4.4 vs. 5.4 ± 3.4; p = 0.015).

Conclusion

Our study shows that the down-regulated SK3 expression in ganglionic intestines might contribute to the persistent bowel symptoms following a properly performed pull-through surgery in Indonesian HSCR patients. Furthermore, this study is the first report of SK3 expression in a sample population of Asian ancestry.

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Title: The impact of down-regulated SK3 expressions on Hirschsprung disease
Authors: Gunadi
Mukhamad Sunardi
Nova Yuli Prasetyo Budi
Alvin Santoso Kalim
Kristy Iskandar
Andi Dwihantoro
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-018-0539-3

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

The impact of down-regulated SK3 expressions on Hirschsprung disease

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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