Abstract
BackgroundRecently, 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.MethodsWe analyzed the UBR4 expressions in the colons of HSCR patient and anorectal malformation (ARM) patient as control by real-time polymerase chain reaction (qPCR).ResultsThirty-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 (ΔCT 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 (ΔCT 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.ConclusionOur study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients.
Highlights
Pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR)
Ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) is a ubiquitin ligase protein that interacts with Ca2+ bound calmodulin in cytoplasm and might act as a regulator of Ca2+, that is released through ITPR1 [6]
UBR4 expressions in HSCR patients Quantitative real-time polymerase chain reaction (qPCR) revealed that the expression of UBR4 was strongly decreased (0.77-fold) in the ganglionic compared to the control group (ΔCT 2.43 ± 0.36 vs. 2.05 ± 0.69; p = 0.009), whereas the UBR4 expression was significantly reduced (0.79-fold) in the aganglionic compared to the control group (ΔCT 2.39 ± 0.46 vs. 2.05 ± 0.69; p = 0.044) (Table 2 and Fig. 1)
Summary
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. Hirschsprung disease (HSCR) is a multifactorial disease characterized by the absence of ganglion cells in the bowel, causing a functional ileus in infants. It is divided into short-aganglionosis, long-aganglionosis, and total colon aganglionosis [1, 2]. Ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) is a ubiquitin ligase protein that interacts with Ca2+ bound calmodulin in cytoplasm and might act as a regulator of Ca2+, that is released through ITPR1 [6].
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