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