Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease
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...
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| Format: | Article |
| Language: | English |
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BMC
2019-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0973-5 |
| _version_ | 1828835412903198720 |
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| author | Gunadi Nova Yuli Prasetyo Budi Alvin Santoso Kalim Wiwid Santiko Fuad Dheni Musthofa Kristy Iskandar Akhmad Makhmudi |
| author_facet | Gunadi Nova Yuli Prasetyo Budi Alvin Santoso Kalim Wiwid Santiko Fuad Dheni Musthofa Kristy Iskandar Akhmad Makhmudi |
| author_sort | Gunadi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-12T18:02:09Z |
| format | Article |
| id | doaj.art-85eafc337d894a17a54f4cc26f64dc8d |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-12T18:02:09Z |
| publishDate | 2019-01-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-85eafc337d894a17a54f4cc26f64dc8d2022-12-22T00:16:36ZengBMCOrphanet Journal of Rare Diseases1750-11722019-01-011411610.1186/s13023-018-0973-5Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung diseaseGunadi0Nova Yuli Prasetyo Budi1Alvin Santoso Kalim2Wiwid Santiko3Fuad Dheni Musthofa4Kristy Iskandar5Akhmad Makhmudi6Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalPediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalPediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalPediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalPediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalDepartment of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic HospitalPediatric Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito HospitalAbstract 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.http://link.springer.com/article/10.1186/s13023-018-0973-5FN1Hirschsprung diseaseIndonesiamiRNA-206PAX3SDPR |
| spellingShingle | Gunadi Nova Yuli Prasetyo Budi Alvin Santoso Kalim Wiwid Santiko Fuad Dheni Musthofa Kristy Iskandar Akhmad Makhmudi Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease Orphanet Journal of Rare Diseases FN1 Hirschsprung disease Indonesia miRNA-206 PAX3 SDPR |
| title | Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease |
| title_full | Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease |
| title_fullStr | Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease |
| title_full_unstemmed | Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease |
| title_short | Aberrant expressions of miRNA-206 target, FN1, in multifactorial Hirschsprung disease |
| title_sort | aberrant expressions of mirna 206 target fn1 in multifactorial hirschsprung disease |
| topic | FN1 Hirschsprung disease Indonesia miRNA-206 PAX3 SDPR |
| url | http://link.springer.com/article/10.1186/s13023-018-0973-5 |
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