Aberrant UBR4 expressions in Hirschsprung disease patients.
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In brief
In brief
Study of 37 Indonesian Hirschsprung disease patients reveals significantly decreased UBR4 gene expression in both ganglionic and aganglionic colon segments compared to controls, independent of gender or disease severity. Findings support UBR4's role in Hirschsprung pathogenesis and may inform future genetic screening approaches.
Written by the GCMD Library team from the article.
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 (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.
CONCLUSION: Our study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients.
doi: 10.1186/s12887-019-1879-7