Telomere and telomerase in chronic liver disease and hepatocarcinoma

World Journal of Gastroenterology

Volumn 20, Issue 20, 2014, Pages 6287-6292

  Carulli, Lucia ^a   Anzivino, Claudia ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Chromosomes; Hepatocarcinoma; Liver cirrhosis; Telomerase; Telomere

Indexed keywords

TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE;

CHRONIC LIVER DISEASE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; GENE MUTATION; HEREDITY; HUMAN; LIVER CELL CARCINOMA; LIVER CIRRHOSIS; PATHOGENESIS; REVIEW; RISK FACTOR; TELOMERE; TELOMERE SHORTENING; CELL AGING; END STAGE LIVER DISEASE; ENZYMOLOGY; GENETIC POLYMORPHISM; GENETICS; LIVER TUMOR; METABOLISM; MUTATION; REGENERATION; ULTRASTRUCTURE;

CARCINOMA, HEPATOCELLULAR; CELL AGING; DISEASE PROGRESSION; END STAGE LIVER DISEASE; HUMANS; LIVER CIRRHOSIS; LIVER NEOPLASMS; MUTATION; POLYMORPHISM, GENETIC; REGENERATION; RISK FACTORS; TELOMERASE; TELOMERE;

EID: 84901486259     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v20.i20.6287     Document Type: Review

References (49)

1. Blackburn EH. Switching and signaling at the telomere. Cell 2001; 106: 661-673. [PMID: 11572773 DOI: 10.1016/ S0092-8674(01)00492-5]
2. Greider CW, Blackburn EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 1985; 43: 405-413. [PMID: 3907856 DOI: 10.1016/0092-86 74(85)90170-9]
3. Hahn WC, Counter CM, Lundberg AS, Beijersbergen RL, Brooks MW, Weinberg RA. Creation of human tumour cells with defined genetic elements. Nature 1999; 400: 464-468. [PMID: 10440377 DOI: 10.1038/22780]
4. Armanios M. Telomerase and idiopathic pulmonary fibrosis. Mutat Res 2012; 730: 52-58. [PMID: 22079513 DOI: 10.1016/j.mrfmmm.2011.10.013]
5. Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA 2005; 102: 15960-15964. [PMID: 16247010]
6. Dokal I. Dyskeratosis congenita. A disease of premature ageing. Lancet 2001; 358 Suppl: S27. [PMID: 11784576 DOI: 10.1016/S0140-6736(01)07040-4]
7. Calado RT, Young NS. Telomere diseases. N Engl J Med 2009; 361: 2353-2365. [PMID: 20007561 DOI: 10.1056/NEJMra0903373]
8. Armanios M. Syndromes of telomere shortening. Annu Rev Genomics Hum Genet 2009; 10: 45-61. [PMID: 19405848 DOI: 10.1146/annurev-genom-082908-150046]
9. Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005; 352: 1413-1424. [PMID: 15814878 DOI: 10.1056/NEJMoa042980]
10. Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999; 107: 335-339. [PMID: 10583221 DOI: 10.1046/j.1365-2141.1999.01690.x]
11. Vulliamy T, Marrone A, Dokal I, Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002; 359: 2168-2170. [PMID: 12090986 DOI: 10.1016/ S0140-6736(02)09087-6]
12. de la Fuente J, Dokal I. Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatr Transplant 2007; 11: 584-594. [PMID: 17663679 DOI: 10.1111/j.1399-3046.2007.00721.x]
13. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, Lansdorp PM, Greider CW, Loyd JE. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007; 356: 1317-1326. [PMID: 17392301 DOI: 10.1056/NEJMoa066157]
14. Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, Vulto I, Xie M, Qi X, Tuder RM, Phillips JA, Lansdorp PM, Loyd JE, Armanios MY. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci USA 2008; 105: 13051-13056. [PMID: 18753630 DOI: 10.1073/ pnas.0804280105]
15. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007; 104: 7552-7557. [PMID: 17460043 DOI: 10.1073/pnas.0701009104]
16. Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 2011; 117: 5607-5611. [PMID: 21436073 DOI: 10.1182/blood-2010-11-322149]
17. Armanios M, Blackburn EH. The telomere syndromes. Nat Rev Genet 2012; 13: 693-704. [PMID: 22965356 DOI: 10.1038/ nrg3246.4]
18. Kodali VP, Gordon SC, Silverman AL, McCray DG. Cryptogenic liver disease in the United States: further evidence for non-A, non-B, and non-C hepatitis. Am J Gastroenterol 1994; 89: 1836-1839. [PMID: 7942678]
19. Wiemann SU, Satyanarayana A, Tsahuridu M, Tillmann HL, Zender L, Klempnauer J, Flemming P, Franco S, Blasco MA, Manns MP, Rudolph KL. Hepatocyte telomere shortening and senescence are general markers of human liver cirrhosis. FASEB J 2002; 16: 935-942. [PMID: 12087054 DOI: 10.1096/fj.01-0977com]
20. Kitada T, Seki S, Kawakita N, Kuroki T, Monna T. Telomere shortening in chronic liver diseases. Biochem Biophys Res Commun 1995; 211: 33-39. [PMID: 7779103]
21. Urabe Y, Nouso K, Higashi T, Nakatsukasa H, Hino N, Ashida K, Kinugasa N, Yoshida K, Uematsu S, Tsuji T. Telomere length in human liver diseases. Liver 1996; 16: 293-297. [PMID: 8938628]
22. Aikata H, Takaishi H, Kawakami Y, Takahashi S, Kitamoto M, Nakanishi T, Nakamura Y, Shimamoto F, Kajiyama G, Ide T. Telomere reduction in human liver tissues with age and chronic inflammation. Exp Cell Res 2000; 256: 578-582. [PMID: 10772830]
23. Rudolph KL, Chang S, Millard M, Schreiber-Agus N, DePinho RA. Inhibition of experimental liver cirrhosis in mice by telomerase gene delivery. Science 2000; 287: 1253-1258. [PMID: 10678830 DOI: 10.1126/science.287.5456.125]
24. Carulli L, Dei Cas A, Nascimbeni F. Synchronous cryptogenic liver cirrhosis and idiopathic pulmonary fibrosis: a clue to telomere involvement. Hepatology 2012; 56: 2001-2003. [PMID: 23045155 DOI: 10.1002/hep.26089]
25. Chaiteerakij R, Roberts LR. Telomerase mutation: a genetic risk factor for cirrhosis. Hepatology 2011; 53: 1430-1432. [PMID: 21425310 DOI: 10.1002/hep.24304]
26. Calado RT, Brudno J, Mehta P, Kovacs JJ, Wu C, Zago MA, Chanock SJ, Boyer TD, Young NS. Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology 2011; 53: 1600-1607. [PMID: 21520173 DOI: 10.1002/ hep.24173]
27. Hartmann D, Srivastava U, Thaler M, Kleinhans KN, N' kontchou G, Scheffold A, Bauer K, Kratzer RF, Kloos N, Katz SF, Song Z, Begus-Nahrmann Y, Kleger A, von Figura G, Strnad P, Lechel A, Günes C, Potthoff A, Deterding K, Wedemeyer H, Ju Z, Song G, Xiao F, Gillen S, Schrezenmeier H, Mertens T, Ziol M, Friess H, Jarek M, Manns MP, Beaugrand M, Rudolph KL. Telomerase gene mutations are associated with cirrhosis formation. Hepatology 2011; 53: 1608-1617. [PMID: 21520174 DOI: 10.1002/hep.24217]
28. Aravinthan A, Scarpini C, Tachtatzis P, Verma S, Penrhyn-Lowe S, Harvey R, Davies SE, Allison M, Coleman N, Alexander G. Hepatocyte senescence predicts progression in non-alcohol-related fatty liver disease. J Hepatol 2013; 58: 549-556. [PMID: 23142622 DOI: 10.1016/j.jhep.2012.10.031]
29. Mitchell JR, Wood E, Collins K. A telomerase component is defective in the human disease dyskeratosis congenita. Nature 1999; 402: 551-555. [PMID: 10591218]
30. Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008; 112: 3594-3600. [PMID: 18669893 DOI: 10.1182/blood-2008-05-153445]
31. Satyanarayana A, Manns MP, Rudolph KL. Telomeres and telomerase: a dual role in hepatocarcinogenesis. Hepatology 2004; 40: 276-283. [PMID: 15368430 DOI: 10.1002/hep.20308]
32. Plentz RR, Schlegelberger B, Flemming P, Gebel M, Kreipe H, Manns MP, Rudolph KL, Wilkens L. Telomere shortening correlates with increasing aneuploidy of chromosome 8 in human hepatocellular carcinoma. Hepatology 2005; 42: 522-526. [PMID: 16116624 DOI: 10.1002/hep.20847]
33. Farazi PA, Glickman J, Jiang S, Yu A, Rudolph KL, DePinho RA. Differential impact of telomere dysfunction on initiation and progression of hepatocellular carcinoma. Cancer Res 2003; 63: 5021-5027. [PMID: 12941829]
34. Nagao K, Tomimatsu M, Endo H, Hisatomi H, Hikiji K. Telomerase reverse transcriptase mRNA expression and telomerase activity in hepatocellular carcinoma. J Gastroenterol 1999; 34: 83-87. [PMID: 10204615]
35. Shimojima M, Komine F, Hisatomi H, Shimizu T, Moriyama M, Arakawa Y. Detection of telomerase activity, telomerase RNA component, and telomerase reverse transcriptase in human hepatocellular carcinoma. Hepatol Res 2004; 29: 31-38. [PMID: 15135344]
36. Lee CM, Hsu CY, Eng HL, Huang WS, Lu SN, Changchien CS, Chen CL, Cho CL. Telomerase activity and telomerase catalytic subunit in hepatocellular carcinoma. Hepatogastroenterology 2004; 51: 796-800. [PMID: 15143919]
37. Kojima H, Yokosuka O, Imazeki F, Saisho H, Omata M. Telomerase activity and telomere length in hepatocellular carcinoma and chronic liver disease. Gastroenterology 1997; 112: 493-500. [PMID: 9024303]
38. Lechel A, Holstege H, Begus Y, Schienke A, Kamino K, Lehmann U, Kubicka S, Schirmacher P, Jonkers J, Rudolph KL. Telomerase deletion limits progression of p53-mutant hepatocellular carcinoma with short telomeres in chronic liver disease. Gastroenterology 2007; 132: 1465-1475. [PMID: 17433324]
39. El Idrissi M, Hervieu V, Merle P, Mortreux F, Wattel E. Cause-specific telomere factors deregulation in hepatocellular carcinoma. J Exp Clin Cancer Res 2013; 32: 64. [PMID: 24020493 DOI: 10.1186/1756-9966-32-64]
40. Paterlini-Bréchot P, Saigo K, Murakami Y, Chami M, Gozuacik D, Mugnier C, Lagorce D, Bréchot C. Hepatitis B virus-related insertional mutagenesis occurs frequently in human liver cancers and recurrently targets human telomerase gene. Oncogene 2003; 22: 3911-3916. [PMID: 12813464 DOI: 10.1038/sj.onc.1206492]
41. Ferber MJ, Montoya DP, Yu C, Aderca I, McGee A, Thorland EC, Nagorney DM, Gostout BS, Burgart LJ, Boix L, Bruix J, McMahon BJ, Cheung TH, Chung TK, Wong YF, Smith DI, Roberts LR. Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers. Oncogene 2003; 22: 3813-3820. [PMID: 12802289 DOI: 10.1038/sj.onc.1206528]
42. Ding D, Lou X, Hua D, Yu W, Li L, Wang J, Gao F, Zhao N, Ren G, Li L, Lin B. Recurrent targeted genes of hepatitis B virus in the liver cancer genomes identified by a next-generation sequencing-based approach. PLoS Genet 2012; 8: e1003065. [PMID: 23236287 DOI: 10.1371/journal.pgen.1003065]
43. Kim H, Oh BK, Roncalli M, Park C, Yoon SM, Yoo JE, Park YN. Large liver cell change in hepatitis B virus-related liver cirrhosis. Hepatology 2009; 50: 752-762. [PMID: 19585549 DOI: 10.1002/hep.23072]
44. Oh BK, Kim H, Park YN, Yoo JE, Choi J, Kim KS, Lee JJ, Park C. High telomerase activity and long telomeres in advanced hepatocellular carcinomas with poor prognosis. Lab Invest 2008; 88: 144-152. [PMID: 18158557 DOI: 10.1038/labinvest.3700710]
45. Oh BK, Kim YJ, Park C, Park YN. Up-regulation of telomere-binding proteins, TRF1, TRF2, and TIN2 is related to telomere shortening during human multistep hepatocarcinogenesis. Am J Pathol 2005; 166: 73-80. [PMID: 15632001 DOI: 10.1016/S0002-9440(10)62233-X]
46. Lee YH, Oh BK, Yoo JE, Yoon SM, Choi J, Kim KS, Park YN. Chromosomal instability, telomere shortening, and inactivation of p21(WAF1/CIP1) in dysplastic nodules of hepatitis B virus-associated multistep hepatocarcinogenesis. Mod Pathol 2009; 22: 1121-1131. [PMID: 19465904 DOI: 10.1038/modpathol. 2009.76]
47. Kew MC. Hepatitis B virus x protein in the pathogenesis of hepatitis B virus-induced hepatocellular carcinoma. J Gastroenterol Hepatol 2011; 26 Suppl 1: 144-152. [PMID: 21199526 DOI: 10.1111/j.1440-1746.2010.06546.x]
48. Greten TF, Forner A, Korangy F, N'Kontchou G, Barget N, Ayuso C, Ormandy LA, Manns MP, Beaugrand M, Bruix J. A phase II open label trial evaluating safety and efficacy of a telomerase peptide vaccination in patients with advanced hepatocellular carcinoma. BMC Cancer 2010; 10: 209. [PMID: 20478057 DOI: 10.1186/1471-2407-10-209]
49. Hu Y, Shen Y, Ji B, Wang L, Zhang Z, Zhang Y. Combinational RNAi gene therapy of hepatocellular carcinoma by targeting human EGFR and TERT. Eur J Pharm Sci 2011; 42: 387-391. [PMID: 21238587 DOI: 10.1016/j.ejps.2011.01.004]