Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers
详细信息 查看全文
- 作者：Li-Ya Chiu (1)
Priya S. Kishnani (2)
Tzu-Po Chuang (3) (4)
Cheng-Yang Tang (1)
Cheng-Yuan Liu (5)
Deeksha Bali (2)
Dwight Koeberl (2)
Stephanie Austin (2)
Keri Boyette (2)
David A. Weinstein (6)
Elaine Murphy (7)
Adam Yao (1) (8)
Yuan-Tsong Chen (2) (8)
Ling-Hui Li (1) (8) - 关键词：Glycogen storage disease ; Hepatocellular adenoma ; Hepatocellular carcinoma ; miRNA ; miR ; 130b
- 刊名：Journal of Gastroenterology
- 出版年：2014
- 出版时间：August 2014
- 年：2014
- 卷：49
- 期：8
- 页码：1274-1284
- 全文大小：1,300 KB
- 参考文献：1. Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science. 1993;262:580鈥?. CrossRef
2. Hiraiwa H, Pan C-J, Lin B, Moses SW, Chou JY. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. J Biol Chem. 1999;274:5532鈥?. CrossRef
3. Bali DS, Chen YT, Goldstein JL. Glycogen storage disease type I. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews. Seattle; 1993.
4. Bianchi L. Glycogen storage disease I and hepatocellular tumours. Eur J Pediatr. 1993;152(Suppl 1):S63鈥?0. CrossRef
5. Di Rocco M, Calevo MG, Taro M, Melis D, Allegri AE, Parenti G. Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Mol Genet Metab. 2008;93:398鈥?02. CrossRef
6. Smit GP, Fernandes J, Leonard JV, Matthews EE, Moses SW, Odievre M, et al. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990;13:411鈥?. CrossRef
7. Lee P, Mather S, Owens C, Leonard J, Dicks-Mireaux C. Hepatic ultrasound findings in the glycogen storage diseases. Br J Radiol. 1994;67:1062鈥?. CrossRef
8. Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, et al. Glycogen storage disease in adults. Ann Intern Med. 1994;120:218鈥?6. CrossRef
9. Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr. 1997;24:276鈥?. CrossRef
10. Weinstein DA, Wolfsdorf JI. Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr. 2002;161(Suppl 1):S35鈥?. CrossRef
11. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002;161(Suppl 1):S20鈥?4. CrossRef
12. Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA, et al. Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J Hepatol. 2007;47:658鈥?3. CrossRef
13. Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, et al. Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med. 2012;14:795鈥?. CrossRef
14. Cho SW, Marsh JW, Steel J, Holloway SE, Heckman JT, Ochoa ER, et al. Surgical management of hepatocellular adenoma: take it or leave it? Ann Surg Oncol. 2008;15:2795鈥?03. CrossRef
15. Lin H, van den Esschert J, Liu C, van Gulik TM. Systematic review of hepatocellular adenoma in China and other regions. J Gastroenterol Hepatol. 2011;26:28鈥?5. CrossRef
16. Farges O, Ferreira N, Dokmak S, Belghiti J, Bedossa P, Paradis V. Changing trends in malignant transformation of hepatocellular adenoma. Gut. 2011;60:85鈥?. CrossRef
17. Limmer J, Fleig WE, Leupold D, Bittner R, Ditschuneit H, Beger HG. Hepatocellular carcinoma in type I glycogen storage disease. Hepatology. 1988;8:531鈥?. CrossRef
18. Kudo M. Hepatocellular adenoma in type Ia glycogen storage disease. J Gastroenterol. 2001;36:65鈥?. CrossRef
19. Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, et al. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. J Inherit Metab Dis. 2005;28:153鈥?2. CrossRef
20. Kishnani PS, Chuang TP, Bali D, Koeberl D, Austin S, Weinstein DA, et al. Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. Hum Mol Genet. 2009;18:4781鈥?0. CrossRef
21. Calderaro J, Labrune P, Morcrette G, Rebouissou S, Franco D, Prevot S, et al. Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. J Hepatol. 2012;58:350鈥?. CrossRef
22. Bartel DP. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell. 2004;116:281鈥?7. CrossRef
23. Li W, Xie L, He X, Li J, Tu K, Wei L, et al. Diagnostic and prognostic implications of microRNAs in human hepatocellular carcinoma. Int J Cancer. 2008;123:1616鈥?2. CrossRef
24. Jiang J, Gusev Y, Aderca I, Mettler TA, Nagorney DM, Brackett DJ, et al. Association of MicroRNA expression in hepatocellular carcinomas with hepatitis infection, cirrhosis, and patient survival. Clin Cancer Res. 2008;14:419鈥?7. CrossRef
25. Chen CZ, Li L, Lodish HF, Bartel DP. MicroRNAs modulate hematopoietic lineage differentiation. Science. 2004;303:83鈥?. CrossRef
26. Croce CM, Calin GA. miRNAs, cancer, and stem cell division. Cell. 2005;122:6鈥?. CrossRef
27. Kozomara A, Griffiths-Jones S. miRBase: integrating microRNA annotation and deep-sequencing data. Nucleic Acids Res. 2011;39:D152鈥?. CrossRef
28. Esquela-Kerscher A, Slack FJ. Oncomirs鈥攎icroRNAs with a role in cancer. Nat Rev Cancer. 2006;6:259鈥?9. CrossRef
29. Garzon R, Fabbri M, Cimmino A, Calin GA, Croce CM. MicroRNA expression and function in cancer. Trends Mol Med. 2006;12:580鈥?. CrossRef
30. Ladeiro Y, Couchy G, Balabaud C, Bioulac-Sage P, Pelletier L, Rebouissou S, et al. MicroRNA profiling in hepatocellular tumors is associated with clinical features and oncogene/tumor suppressor gene mutations. Hepatology. 2008;47:1955鈥?3. CrossRef
31. Bandres E, Cubedo E, Agirre X, Malumbres R, Zarate R, Ramirez N, et al. Identification by Real-time PCR of 13 mature microRNAs differentially expressed in colorectal cancer and non-tumoral tissues. Mol Cancer. 2006;5:29. CrossRef
32. Wu W, Sun M, Zou GM, Chen J. MicroRNA and cancer: current status and prospective. Int J Cancer. 2007;120:953鈥?0. CrossRef
33. Liu AM, Yao TJ, Wang W, Wong KF, Lee NP, Fan ST, et al. Circulating miR-15b and miR-130b in serum as potential markers for detecting hepatocellular carcinoma: a retrospective cohort study. BMJ Open. 2012;2:e000825. CrossRef
34. Tomimaru Y, Eguchi H, Nagano H, Wada H, Kobayashi S, Marubashi S, et al. Circulating microRNA-21 as a novel biomarker for hepatocellular carcinoma. J Hepatol. 2012;56:167鈥?5. CrossRef
35. Chen CF, Hsu EC, Lin KT, Tu PH, Chang HW, Lin CH, et al. Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma. Hepatology. 2010;52:1690鈥?01. CrossRef
36. Pineau P, Volinia S, McJunkin K, Marchio A, Battiston C, Terris B, et al. miR-221 overexpression contributes to liver tumorigenesis. Proc Natl Acad Sci USA. 2010;107:264鈥?. CrossRef
37. Mitchell PS, Parkin RK, Kroh EM, Fritz BR, Wyman SK, Pogosova-Agadjanyan EL, et al. Circulating microRNAs as stable blood-based markers for cancer detection. Proc Natl Acad Sci USA. 2008;105:10513鈥?. CrossRef
38. Murakami Y, Yasuda T, Saigo K, Urashima T, Toyoda H, Okanoue T, et al. Comprehensive analysis of microRNA expression patterns in hepatocellular carcinoma and non-tumorous tissues. Oncogene. 2006;25:2537鈥?5. CrossRef
39. Shen Q, Cicinnati VR, Zhang X, Iacob S, Weber F, Sotiropoulos GC, et al. Role of microRNA-199a-5p and discoidin domain receptor 1 in human hepatocellular carcinoma invasion. Mol Cancer. 2010;9:227. CrossRef
40. Wang Y, Lee AT, Ma JZ, Wang J, Ren J, Yang Y, et al. Profiling microRNA expression in hepatocellular carcinoma reveals microRNA-224 up-regulation and apoptosis inhibitor-5 as a microRNA-224-specific target. J Biol Chem. 2008;283:13205鈥?5. CrossRef
41. Weng Z, Wang D, Zhao W, Song M, You F, Yang L, et al. microRNA-450a targets DNA methyltransferase 3a in hepatocellular carcinoma. Exp Ther Med. 2011;2:951鈥?.
42. Gao P, Wong CC, Tung EK, Lee JM, Wong CM, Ng IO. Deregulation of microRNA expression occurs early and accumulates in early stages of HBV-associated multistep hepatocarcinogenesis. J Hepatol. 2011;54:1177鈥?4. CrossRef
43. Li Q, Wang G, Shan JL, Yang ZX, Wang HZ, Feng J, et al. MicroRNA-224 is upregulated in HepG2 cells and involved in cellular migration and invasion. J Gastroenterol Hepatol. 2010;25:164鈥?1. CrossRef
44. Connolly E, Melegari M, Landgraf P, Tchaikovskaya T, Tennant BC, Slagle BL, et al. Elevated expression of the miR-17-92 polycistron and miR-21 in hepadnavirus-associated hepatocellular carcinoma contributes to the malignant phenotype. Am J Pathol. 2008;173:856鈥?4. CrossRef
45. Ma S, Tang KH, Chan YP, Lee TK, Kwan PS, Castilho A, et al. miR-130b Promotes CD133(+) liver tumor-initiating cell growth and self-renewal via tumor protein 53-induced nuclear protein 1. Cell Stem Cell. 2010;7:694鈥?07. CrossRef
46. Meng F, Henson R, Wehbe-Janek H, Ghoshal K, Jacob ST, Patel T. MicroRNA-21 regulates expression of the PTEN tumor suppressor gene in human hepatocellular cancer. Gastroenterology. 2007;133:647鈥?8. CrossRef
47. Shih TC, Tien YJ, Wen CJ, Yeh TS, Yu MC, Huang CH, et al. MicroRNA-214 downregulation contributes to tumor angiogenesis by inducing secretion of the hepatoma-derived growth factor in human hepatoma. J Hepatol. 2012;57:584鈥?1. CrossRef
48. Wang C, Song B, Song W, Liu J, Sun A, Wu D, et al. Underexpressed microRNA-199b-5p targets hypoxia-inducible factor-1alpha in hepatocellular carcinoma and predicts prognosis of hepatocellular carcinoma patients. J Gastroenterol Hepatol. 2011;26:1630鈥?. CrossRef
49. Wang Y, Toh HC, Chow P, Chung AY, Meyers DJ, Cole PA, et al. MicroRNA-224 is upregulated in hepatocellular carcinoma through epigenetic mechanisms. FASEB J. 2012;26:3032鈥?1. CrossRef - 作者单位：Li-Ya Chiu (1)
Priya S. Kishnani (2)
Tzu-Po Chuang (3) (4)
Cheng-Yang Tang (1)
Cheng-Yuan Liu (5)
Deeksha Bali (2)
Dwight Koeberl (2)
Stephanie Austin (2)
Keri Boyette (2)
David A. Weinstein (6)
Elaine Murphy (7)
Adam Yao (1) (8)
Yuan-Tsong Chen (2) (8)
Ling-Hui Li (1) (8)
1. National Center for Genome Medicine, Academia Sinica, Taipei, Taiwan
2. Division of Pediatric Medical Genetics, Duke University Medical Center, Durham, NC, USA
3. Molecular Medicine Program, Taiwan International Graduate Program, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
4. Institute of Biochemistry and Molecular Biology, School of Life Sciences, National Yang-Ming University, Taipei, Taiwan
5. Life Technology Taiwan Branch, Taipei, Taiwan
6. Glycogen Storage Disease Program, University of Florida College of Medicine, Gainesville, FL, USA
7. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK
8. Institute of Biomedical Sciences, Academia Sinica, Taipei, 115, Taiwan - ISSN：1435-5922
文摘
Background It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compared to HCA from other etiologies. In this study, we aimed to identify differentially expressed miRNAs in GSD Ia HCA as candidates that could serve as putative biomarkers for detection of GSD Ia HCA and/or risk assessment of malignant transformation. Methods Utilizing massively parallel sequencing, the miRNA profiling was performed for paired adenomas and normal liver tissues from seven GSD Ia patients. Differentially expressed miRNAs were validated in liver tumor tissues, HCC cell lines and serum using quantitative RT-PCR. Results miR-34a, miR-34a*, miR-224, miR-224*, miR-424, miR-452 and miR-455-5p were found to be commonly deregulated in GSD Ia HCA, general population HCA, and HCC cell lines at compatible levels. In comparison with GSD Ia HCA, the upregulation of miR-130b and downregulation of miR-199a-5p, miR-199b-5p, and miR-214 were more significant in HCC cell lines. Furthermore, serum level of miR-130b in GSD Ia patients with HCA was moderately higher than that in either GSD Ia patients without HCA or healthy individuals. Conclusion We make the first observation of distinct miRNA deregulation in HCA associated with GSD Ia. We also provide evidence that miR-130b could serve as a circulating biomarker for detection of GSD Ia HCA. This work provides prominent candidate miRNAs worth evaluating as biomarkers for monitoring the development and progress of liver tumors in GSD Ia patients in the future.