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Aberrant UBR4 expressions in Hirschsprung disease patients.

ABSTRACT: BACKGROUND:Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesian HSCR patients. METHODS:We analyzed the UBR4 expressions in the colons of HSCR patient and anorectal malformation (ARM) patient as control by real-time polymerase chain reaction (qPCR). RESULTS:Thirty-seven patients with non-syndromic HSCR and eighteen controls were involved in this study. qPCR revealed that the UBR4 expression was strongly decreased (0.77-fold) in the ganglionic group of patients with HSCR compared to the control group with ARM (?CT 2.43?±?0.36 vs. 2.05?±?0.69; p?=?0.009), whereas the UBR4 expression was also significantly reduced (0.79-fold) in the aganglionic group of patients with HSCR compared to the control group with ARM (?CT 2.39?±?0.46 vs. 2.05?±?0.69; p?=?0.044). However, the UBR4 expression change was not associated with gender (p?=?0.35 and 0.80), nor with degree of aganglionosis both in ganglionic and aganglionic colons (p?=?0.72 and 0.73), respectively. CONCLUSION:Our study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients.

SUBMITTER: Gunadi

PROVIDER: S-EPMC6907357 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Aberrant UBR4 expressions in Hirschsprung disease patients.

Gunadi Kalim Alvin Santoso AS Liana Estelita E Fauzi Aditya Rifqi AR Sirait Dian Nirmala DN Afandy Dwiki D Kencana Sagita Mega Sekar SMS Purnomo Eko E Iskandar Kristy K Makhmudi Akhmad A

BMC pediatrics 20191212 1

<h4>Background</h4>Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesian HSCR patients.<h4>Methods</h4>We analyzed the UBR4 expressions in the colons of HSCR patient and anorectal malformation (ARM) patient as control by real-time polymerase chain reaction (qPCR).<h4>Results</h4>Thirty-seven patients with non-syndromic HSCR and eighteen ...[more]

PMID: 31830949

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Project description:BackgroundHirschsprung disease (HSCR) is a complex genetic disorder characterized by the lack of ganglion cells in the intestines. A current study showed that the NRG1 rare variant frequency in Indonesian patients with HSCR is only 0.9%. Here, we investigated the impact of NRG1 expressions and methylation patterns on the pathogenesis of HSCR.MethodsThis cross-sectional study determined NRG1 type I (HRGα, HRGβ1, HRGβ2, HRGβ3, HRGγ, and NDF43 isoforms), type II and type III expressions in both ganglionic and aganglionic colons of 20 patients with HSCR and 10 control colons by real-time polymerase chain reaction (qPCR). For methylation studies, we treated the extracted gDNA from 16 HSCR patients' and 17 control colons with sodium bisulfate and analyzed the methylation pattern of NRG1 exon 1 with methylation-specific PCR. The samples were collected and analyzed at our institution from December 2018 to December 2020.ResultsNRG1 types I, II and III expressions were upregulated (17.2-, 3.2-, and 7.2-fold, respectively) in the ganglionic colons compared with control colons (type I: 13.32 ± 1.65 vs. 17.42 ± 1.51, p < 0.01; type II: 13.73 ± 2.02 vs. 16.29 ± 2.19, p < 0.01; type III: 13.47 ± 3.01 vs. 16.32 ± 2.58, p = 0.03; respectively); while only type I (7.7-fold) and HRGβ1/HRGβ2 (3.3-fold) isoforms were significantly upregulated in the aganglionic colons compared to the controls (type I: 14.47 ± 1.66 vs. 17.42 ± 1.51, p < 0.01; HRGβ1/HRGβ2: 13.62 ± 3.42 vs 14.75 ± 1.26, p = 0.01). Moreover, the frequency of partially methylated NRG1 was higher in the ganglionic (81%) and aganglionic (75%) colons than in the controls (59%).ConclusionsOur study provides further insights into the aberrant NRG1 expression in the colons of patients with HSCR, both ganglionic and aganglionic bowel, which might contribute to the development of HSCR, particularly in Indonesia. Furthermore, these aberrant NRG1 expressions might be associated with its methylation pattern.

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Aberrant UBR4 expressions in Hirschsprung disease patients.

Publications

Aberrant UBR4 expressions in Hirschsprung disease patients.

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