Gunadi, Gunadi and Vujira, Khanza Adzkia and Amadeus, Verrell Christopher and Gabriela, Gita Christy and Amaragati, Adisrasti Rejeki and Geometri, Esensi Tarian and Eryvinka, Laudria Stella and Ferdinandus, Kevin Eliezer and Pramono, Nabila Ardia and Dwihantoro, Andi (2026) Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease. Current Pediatric Reviews, 22 (2). 152 - 157. ISSN 15733963
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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 EDNRB and EDN3. Here, we aimed to determine the EDRNB and EDN3 expressions effects in HSCR subjects. Methods: Our study analyzed EDNRB and EDN3 expressions in the colon of HSCR subjects and controls by a quantitative PCR. The EDNRB and EDN3 expressions were analyzed by the Livak method (2<sup>-C</sup><sub>T</sub>). Results: Twenty-seven HSCR patients and 20 controls were ascertained. EDNRB and EDN3 expressions downregulated was found in ganglionic and aganglionic HSCR than control colons (EDNRB: C<sub>T</sub> 6.78 ± 1.38 vs. 1.71 ± 2.79; p = 0.0001 (ganglionic); C<sub>T</sub> 4.41 ± 1.63 vs. 1.71 ± 2.79; p = 0.0005 (aganglionic); and EDN3: C<sub>T</sub> 7.60 ± 1.93 vs. 1.81 ± 2.89; p = 0.0001 (ganglionic);C<sub>T</sub> 9.72 ± 4.32 vs. 1.81 ± 2.89; p = 0.0001 (aganglionic)). A significant difference in EDNRB and EDN3 expressions was also noted between the HSCR colon: ganglionic vs. aganglionic segment (p = 0.00002 and 0.017). Conclusion: We report the downregulated EDNRB and EDN3 expressions in HSCR subjects, indicating EDNRB/EDN3 expressions have a significant responsibility in HSCR pathogenesis. Nevertheless, we further clarify the complexity of the development of ENS. 2026, Bentham Science Publishers
| Item Type: | Article |
|---|---|
| Additional Information: | Cited by: 3 |
| Uncontrolled Keywords: | Case-Control Studies; Child, Preschool; Colon; Down-Regulation; Endothelin-3; Female; Hirschsprung Disease; Humans; Infant; Male; Receptor, Endothelin B; endothelin 3; endothelin receptor; endothelin receptor type b; unclassified drug; EDN3 protein, human; EDNRB protein, human; endothelin 3; endothelin B receptor; adult; aganglionosis; Article; child; clinical article; controlled study; epistasis; female; gene expression; gene frequency; Hirschsprung disease; human; human cell; human tissue; male; multifactorial inheritance; pathogenesis; population research; protein expression; real time polymerase chain reaction; responsibility; RNA extraction; RNA isolation; translational research; Western blotting; case control study; colon; down regulation; genetics; infant; metabolism; preschool child |
| Subjects: | R Medicine > RD Surgical Divisions |
| Divisions: | Faculty of Medicine, Public Health and Nursing > Surgical Divisions |
| Depositing User: | Mukhotib Mukhotib |
| Date Deposited: | 03 Nov 2026 03:26 |
| Last Modified: | 03 Nov 2026 03:26 |
| URI: | https://ir.lib.ugm.ac.id/id/eprint/30902 |
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