tailieunhanh - Aberrant UBR4 expressions in Hirschsprung disease patients

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. | Gunadi et al. BMC Pediatrics 2019 19 493 https s12887-019-1879-7 RESEARCH ARTICLE Open Access Aberrant UBR4 expressions in Hirschsprung disease patients Check for updates f 1 1 Al- - 1 1 9 I . I . I 9 A I . - r I 9 K 1 1 Í- 9 I A r 19 Gunadi Alvin Santoso Kalim Estelita Liana Aditya Rifqi Fauzi Dian Nirmala Sirait Dwiki Afandy Sagita Mega Sekar Kencana2 Eko Purnomo4 Kristy Iskandar5 and Akhmad Makhmudi1 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 in the ganglionic group of patients with HSCR compared to the control group with ARM ACT vs. p whereas the UBR4 expression was also significantly reduced in the aganglionic group of patients with HSCR compared to the control group with ARM ACT vs. p . However the UBR4 expression change was not associated with gender p and nor with degree of aganglionosis both in ganglionic and aganglionic colons p and respectively. Conclusion Our study demonstrates that expression of UBR4 is decreased in both aganglionic and ganglionic colon of HSCR patients. Keywords Aberrant expression Ca2 signaling Hirschsprung disease Indonesia Pathogenesis UBR4 Background 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 . Its .