{"title":"EDNRB和EDN3在多因素巨结肠疾病中的异常表达","authors":"Gunadi, Khanza Adzkia Vujira, Verrell Christopher Amadeus, Gita Christy Gabriela, Adisrasti Rejeki Amaragati, Esensi Tarian Geometri, Laudria Stella Eryvinka, Kevin Eliezer Ferdinandus, Nabila Ardia Pramono, Andi Dwihantoro","doi":"10.2174/0115733963343518241223193627","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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-ΔΔC T).</p><p><strong>Results: </strong>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: ΔCT 6.78 ± 1.38 vs. 1.71 ± 2.79; p = 0.0001 (ganglionic); ΔCT 4.41 ± 1.63 vs. 1.71 ± 2.79; p = 0.0005 (aganglionic); and EDN3: ΔCT 7.60 ± 1.93 vs. 1.81 ± 2.89; p = 0.0001 (ganglionic); ΔCT 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).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":11175,"journal":{"name":"Current Pediatric Reviews","volume":" ","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease.\",\"authors\":\"Gunadi, Khanza Adzkia Vujira, Verrell Christopher Amadeus, Gita Christy Gabriela, Adisrasti Rejeki Amaragati, Esensi Tarian Geometri, Laudria Stella Eryvinka, Kevin Eliezer Ferdinandus, Nabila Ardia Pramono, Andi Dwihantoro\",\"doi\":\"10.2174/0115733963343518241223193627\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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-ΔΔC T).</p><p><strong>Results: </strong>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: ΔCT 6.78 ± 1.38 vs. 1.71 ± 2.79; p = 0.0001 (ganglionic); ΔCT 4.41 ± 1.63 vs. 1.71 ± 2.79; p = 0.0005 (aganglionic); and EDN3: ΔCT 7.60 ± 1.93 vs. 1.81 ± 2.89; p = 0.0001 (ganglionic); ΔCT 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).</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":11175,\"journal\":{\"name\":\"Current Pediatric Reviews\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-01-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Pediatric Reviews\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2174/0115733963343518241223193627\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Pediatric Reviews","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2174/0115733963343518241223193627","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
摘要
背景：巨结肠病（HSCR）是一种由肠神经系统（ENS）发育障碍引起的多因素疾病。至少有35个基因与HSCR有关，包括EDNRB和EDN3。在这里，我们旨在确定EDRNB和EDN3表达对HSCR受试者的影响。方法：采用定量PCR方法分析HSCR患者和对照组结肠中EDNRB和EDN3的表达。采用Livak法分析EDNRB和EDN3的表达（2-ΔΔC T）。结果：确定27例HSCR患者和20例对照组。EDNRB和EDN3在神经节和神经节细胞HSCR中的表达较对照组下调(EDNRB： ΔCT 6.78±1.38 vs. 1.71±2.79；P = 0.0001（神经节）；ΔCT 4.41±1.63 vs. 1.71±2.79；P = 0.0005（神经节）；EDN3： ΔCT 7.60±1.93 vs. 1.81±2.89；P = 0.0001（神经节）；ΔCT 9.72±4.32 vs. 1.81±2.89；P = 0.0001（神经节）)。EDNRB和EDN3的表达在HSCR结肠：神经节段和神经节段之间也有显著差异（p = 0.00002和0.017）。结论：我们报道了HSCR受试者中EDNRB和EDN3表达下调，表明EDNRB/EDN3表达在HSCR发病中起重要作用。然而，我们进一步阐明了ENS发展的复杂性。
Aberrant Expressions of EDNRB and EDN3 in a Multifactorial Hirschsprung Disease.
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-ΔΔC T).
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: ΔCT 6.78 ± 1.38 vs. 1.71 ± 2.79; p = 0.0001 (ganglionic); ΔCT 4.41 ± 1.63 vs. 1.71 ± 2.79; p = 0.0005 (aganglionic); and EDN3: ΔCT 7.60 ± 1.93 vs. 1.81 ± 2.89; p = 0.0001 (ganglionic); ΔCT 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.
期刊介绍：
Current Pediatric Reviews publishes frontier reviews on all the latest advances in pediatric medicine. The journal’s aim is to publish the highest quality review articles dedicated to clinical research in the field. The journal is essential reading for all researchers and clinicians in pediatric medicine.
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