Aberrant expressions of miRNA-206 target, FN1 , in multifactorial Hirschsprung disease
- PDF / 730,665 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 42 Downloads / 152 Views
(2019) 14:5
RESEARCH
Open Access
Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease Gunadi1* , Nova Yuli Prasetyo Budi1, Alvin Santoso Kalim1, Wiwid Santiko1, Fuad Dheni Musthofa1, Kristy Iskandar2 and Akhmad Makhmudi1
Abstract Background: MicroRNAs (miRNAs) have been associated with the Hirschsprung disease (HSCR) pathogenesis, however, the findings are still inconclusive. We aimed to investigate the effect of miRNA-206 and its targets, fibronectin 1 (FN1), serum deprivation response (SDPR), and paired box 3 (PAX3) expressions on multifactorial HSCR in Indonesia, a genetically distinct group within Asia. Methods: We determined the miRNA-206, FN1, SDPR and PAX3 expressions in both the ganglionic and aganglionic colon of HSCR patients and control colon by quantitative real-time polymerase chain reaction (qRT-PCR). Results: Twenty-one sporadic HSCR patients and thirteen controls were ascertained in this study. The miRNA-206 expression was up-regulated (2-fold) in the ganglionic colon and down-regulated (0.5-fold) in the aganglionic colon compared to the control group (ΔCT 12.4 ± 3.0 vs. 14.1 ± 3.9 vs. 13.1 ± 2.7), but these differences did not reach significant levels (p = 0.48 and p = 0.46, respectively). Interestingly, the FN1 expression was significantly increased in both the ganglionic (38-fold) and aganglionic colon (18-fold) groups compared to the control group ΔCT 5.7 ± 3.0 vs. 6.8 ± 2.3 vs. 11.0 ± 5.0; p = 0.001 and p = 0.038, respectively). Furthermore, the expressions of SDPR were similar in the ganglionic, aganglionic and control colon groups (ΔCT 2.4 ± 0.6 vs. 2.2 ± 0.4 vs. 2.1 ± 0.6; p = 0.16 and p = 0.39, respectively), while no change was observed in the PAX3 expression between the ganglionic, aganglionic, and control colon groups (ΔCT 3.8 ± 0.8 vs. 4.1 ± 0.8 vs. 3.7 ± 1.1; p = 0.83 and p = 0.44, respectively). Conclusion: Our study is the first report of aberrant FN1 expressions in the colon of patients with HSCR and supplies further insights into the contribution of aberrant FN1 expression in the HSCR pathogenesis. Keywords: FN1, Hirschsprung disease, Indonesia, miRNA-206, PAX3, SDPR
Background Hirschsprung disease (HSCR: MIM# 142623) is a complex genetic disorder characterized by the absence of ganglion cells in the intestines, resulting in a functional obstruction in children. HSCR is classified as follows: short-segment HSCR, long-segment HSCR, and total colonic aganglionosis [1, 2]. The incidence of HSCR varies among ethnic groups with 1.5, 2.1, and 2.8 cases per 10,000 live births in European, African and Asian ancestry cases, respectively [1, 2]. At least 15 genes have been associated with the pathogenesis of HSCR, with the RET gene as primarily * Correspondence: [email protected] 1 Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Jl. Kesehatan No. 1, Yogyakarta 55281, Indonesia Full list of author information is available at the end of the article
responsib
Data Loading...
