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image of Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease

Abstract

Background

Hirschsprung disease (HSCR) is a multifactorial disorder due to the enteric nervous system (ENS) development failure. At least 35 genes have been responsible for HSCR, including and . Here, we aimed to determine the and expressions effects in HSCR subjects.

Methods

Our study analyzed and expressions in the colon of HSCR subjects and controls by a quantitative PCR. The and expressions were analyzed by the Livak method (2-ΔΔC).

Results

Twenty-seven HSCR patients and 20 controls were ascertained. and expressions downregulated was found in ganglionic and aganglionic HSCR than control colons (: ΔC 6.78 ± 1.38 . 1.71 ± 2.79; = 0.0001 (ganglionic); ΔC 4.41 ± 1.63 . 1.71 ± 2.79; = 0.0005 (aganglionic); and : ΔC 7.60 ± 1.93 . 1.81 ± 2.89; = 0.0001 (ganglionic); ΔC 9.72 ± 4.32 . 1.81 ± 2.89; = 0.0001 (aganglionic)). A significant difference in and expressions was also noted between the HSCR colon: ganglionic aganglionic segment ( = 0.00002 and 0.017).

Conclusion

We report the downregulated and expressions in HSCR subjects, indicating expressions have a significant responsibility in HSCR pathogenesis. Nevertheless, we further clarify the complexity of the development of ENS.

© 2025 Bentham Science Publishers
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2025-01-22
2025-04-11

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Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease
Bentham Science Publishers ; https://doi.org/10.2174/0115733963343518241223193627
/content/journals/cpr/10.2174/0115733963343518241223193627
/content/journals/cpr/10.2174/0115733963343518241223193627
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  • Article Type:     Research Article
Keywords: development of enteric nervous systems ; hirschsprung disease ; downregulated expressions

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