Recent progress in dyskeratosis congenita

International Journal of Hematology

Volumn 92, Issue 3, 2010, Pages 419-424

  Nishio, Nobuhiro ^a   Kojima, Seiji ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Bone marrow failure; Dyskeratosis congenita; Telomerase; Telomere

Indexed keywords

ERYTHROPOIETIN; FLUDARABINE; GRANULOCYTE COLONY STIMULATING FACTOR; OXYMETHOLONE; PROTEIN; PROTEIN NHP2; PROTEIN NOP10; PROTEIN TERC; PROTEIN TINF2; TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE; TELOMERIC REPEAT BINDING FACTOR 1; TELOMERIC REPEAT BINDING FACTOR 2; UNCLASSIFIED DRUG;

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ANDROGEN THERAPY; APLASTIC ANEMIA; BONE MARROW DEPRESSION; CAUSE OF DEATH; CHROMOSOME ABERRATION; CYTOPENIA; DRUG TARGETING; DYSKERATOSIS CONGENITA; FIBROSING ALVEOLITIS; GENE MUTATION; GRAFT VERSUS HOST REACTION; HUMAN; IMMUNE DEFICIENCY; LIVER DISEASE; LIVER TRANSPLANTATION; LUNG DISEASE; LUNG FIBROSIS; LUNG TRANSPLANTATION; NONMYELOABLATIVE CONDITIONING; PATHOPHYSIOLOGY; RESPIRATORY FAILURE; REVIEW; SKIN MANIFESTATION; SKIN PIGMENTATION; STEM CELL TRANSPLANTATION; TELOMERE;

ANIMALS; BONE MARROW DISEASES; DYSKERATOSIS CONGENITA; HUMANS; MUTATION; TELOMERE;

EID: 78549268108     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12185-010-0695-5     Document Type: Review

References (51)

1. CW Greider EH Blackburn 1985 Identification of a specific telomere terminal transferase activity in Tetrahymena extracts Cell 43 405 413 1:CAS:528:DyaL28Xot12itQ%3D%3D 10.1016/0092-8674(85)90170-9 3907856
2. JW Szostak EH Blackburn 1982 Cloning yeast telomeres on linear plasmid vectors Cell 29 245 255 1:CAS:528:DyaL38XktlCisbg%3D 10.1016/0092-8674(82)90109- X 6286143
3. HY Du E Pumbo J Ivanovich P An RT Maziarz UM Reiss, et al. 2009 TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements Blood 113 309 316 1:CAS:528:DC%2BD1MXptFSisw%3D%3D 10.1182/blood-2008-07-166421 18931339
4. HY Du PJ Mason M Bessler DB Wilson 2009 TINF2 mutations in children with severe aplastic anemia Pediatr Blood Cancer 52 687 10.1002/pbc.21903 19090550
5. AJ Walne I Dokal 2008 Dyskeratosis congenita: a historical perspective Mech Ageing Dev 129 48 59 1:CAS:528:DC%2BD1cXhslygt70%3D 10.1016/j.mad.2007.10. 006 18054794 (Pubitemid 351199862)
6. J Liang H Yagasaki Y Kamachi A Hama K Matsumoto K Kato, et al. 2006 Mutations in telomerase catalytic protein in Japanese children with aplastic anemia Haematologica. 91 656 658 1:CAS:528:DC%2BD28Xls1Srt7Y%3D 16627250
7. H Yamaguchi RT Calado H Ly S Kajigaya GM Baerlocher SJ Chanock, et al. 2005 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia N Engl J Med 352 1413 1424 1:CAS:528:DC%2BD2MXjtVWltr8%3D 10.1056/NEJMoa042980 15814878 (Pubitemid 40471449)
8. TJ Vulliamy A Walne A Baskaradas PJ Mason A Marrone I Dokal 2005 Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure Blood Cells Mol Dis 34 257 263 1:CAS:528:DC%2BD2MXktVKgtLk%3D 10.1016/j.bcmd.2004.12.008 15885610 (Pubitemid 40693563)
9. H Yamaguchi GM Baerlocher PM Lansdorp SJ Chanock O Nunez E Sloand, et al. 2003 Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome Blood 102 916 918 1:CAS:528:DC%2BD3sXlvFCmsbk%3D 10.1182/blood-2003-01-0335 12676774 (Pubitemid 36917783)
10. T Vulliamy A Marrone I Dokal PJ Mason 2002 Association between aplastic anaemia and mutations in telomerase RNA Lancet 359 2168 2170 1:CAS:528:DC%2BD38XkslGhtrk%3D 10.1016/S0140-6736(02)09087-6 12090986 (Pubitemid 34694028)
11. KD Tsakiri JT Cronkhite PJ Kuan C Xing G Raghu JC Weissler, et al. 2007 Adult-onset pulmonary fibrosis caused by mutations in telomerase Proc Natl Acad Sci USA. 104 7552 7557 1:CAS:528:DC%2BD2sXlslWqtL4%3D 10.1073/pnas.0701009104 17460043 (Pubitemid 47185944)
12. MY Armanios JJ Chen JD Cogan JK Alder RG Ingersoll C Markin, et al. 2007 Telomerase mutations in families with idiopathic pulmonary fibrosis N Engl J Med 356 1317 1326 1:CAS:528:DC%2BD2sXjsFKhsL0%3D 10.1056/NEJMoa066157 17392301 (Pubitemid 46513297)
13. RT Calado JA Regal DE Kleiner DS Schrump NR Peterson V Pons, et al. 2009 A spectrum of severe familial liver disorders associate with telomerase mutations PLoS ONE. 4 e7926 10.1371/journal.pone.0007926 19936245
14. AJ Walne A Marrone I Dokal 2005 Dyskeratosis congenita: a disorder of defective telomere maintenance? Int J Hematol 82 184 189 1:CAS:528: DC%2BD2MXht1ehsLrK 10.1532/IJH97.05067 16207588 (Pubitemid 41552321)
15. M Kirwan I Dokal 2009 Dyskeratosis congenita, stem cells and telomeres Biochim Biophys Acta 1792 371 379 1:CAS:528:DC%2BD1MXksVaqsbk%3D 19419704
16. TJ Vulliamy A Marrone SW Knight A Walne PJ Mason I Dokal 2006 Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation Blood 107 2680 2685 1:CAS:528:DC%2BD28XjtlKlurw%3D 10.1182/blood-2005-07-2622 16332973
17. I Dokal 2000 Dyskeratosis congenita in all its forms Br J Haematol 110 768 779 1:STN:280:DC%2BD3crgsFaitA%3D%3D 10.1046/j.1365-2141.2000.02109.x 11054058
18. AJ Walne I Dokal 2009 Advances in the understanding of dyskeratosis congenita Br J Haematol 145 164 172 1:CAS:528:DC%2BD1MXltlSmsbo%3D 10.1111/j.1365-2141.2009.07598.x 19208095
19. NS Heiss SW Knight TJ Vulliamy SM Klauck S Wiemann PJ Mason, et al. 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nat Genet 19 32 38 1:CAS:528: DyaK1cXislWqurk%3D 10.1038/ng0598-32 9590285 (Pubitemid 28242019)
20. JR Mitchell E Wood K Collins 1999 A telomerase component is defective in the human disease dyskeratosis congenita Nature. 402 551 555 1:CAS:528:DyaK1MXotFKltr8%3D 10.1038/990141 10591218
21. T Vulliamy A Marrone F Goldman A Dearlove M Bessler PJ Mason, et al. 2001 The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature. 413 432 435 1:CAS:528:DC%2BD3MXntl2gur0%3D 10.1038/35096585 11574891 (Pubitemid 32928599)
22. M Armanios JL Chen YP Chang RA Brodsky A Hawkins CA Griffin, et al. 2005 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita Proc Natl Acad Sci USA. 102 15960 15964 1:CAS:528:DC%2BD2MXht1Wqsr7M 10.1073/pnas.0508124102 16247010 (Pubitemid 41552850)
23. A Marrone A Walne H Tamary Y Masunari M Kirwan R Beswick, et al. 2007 Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome Blood 110 4198 4205 1:CAS:528:DC%2BD1cXotFyl 10.1182/blood-2006-12-062851 17785587 (Pubitemid 351377783)
24. AJ Walne T Vulliamy A Marrone R Beswick M Kirwan Y Masunari, et al. 2007 Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 Hum Mol Genet 16 1619 1629 1:CAS:528:DC%2BD2sXosFektL0%3D 10.1093/hmg/ddm111 17507419 (Pubitemid 47050675)
25. T Vulliamy R Beswick M Kirwan A Marrone M Digweed A Walne, et al. 2008 Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita Proc Natl Acad Sci USA. 105 8073 8078 1:CAS:528:DC%2BD1cXns1elsLg%3D 10.1073/pnas.0800042105 18523010 (Pubitemid 351904710)
26. SA Savage N Giri GM Baerlocher N Orr PM Lansdorp BP Alter 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita Am J Hum Genet 82 501 509 1:CAS:528:DC%2BD1cXit1SisrY%3D 10.1016/j.ajhg.2007.10.004 18252230
27. SE Ball FM Gibson S Rizzo JA Tooze JC Marsh EC Gordon-Smith 1998 Progressive telomere shortening in aplastic anemia Blood 91 3582 3592 1:CAS:528:DyaK1cXjtFersrs%3D 9572992
28. JJ Lee H Kook IJ Chung JA Na MR Park TJ Hwang, et al. 2001 Telomere length changes in patients with aplastic anaemia Br J Haematol 112 1025 1030 1:CAS:528:DC%2BD3MXjsV2qsrk%3D 10.1046/j.1365-2141.2001.02669.x 11298602 (Pubitemid 32322932)
29. GM Baerlocher I Vulto G de Jong PM Lansdorp 2006 Flow cytometry and FISH to measure the average length of telomeres (flow FISH) Nat Protoc 1 2365 2376 1:CAS:528:DC%2BD2sXhtFGjtLbL 10.1038/nprot.2006.263 17406480
30. A Canela P Klatt MA Blasco 2007 Telomere length analysis Methods Mol Biol 371 45 72 1:CAS:528:DC%2BD2sXls1Knu7k%3D 10.1007/978-1-59745-361-5-5 17634573
31. BP Alter GM Baerlocher SA Savage SJ Chanock BB Weksler JP Willner, et al. 2007 Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita Blood 110 1439 1447 1:CAS:528:DC%2BD2sXhtVSgsb%2FL 10.1182/blood-2007-02-075598 17468339 (Pubitemid 47443958)
32. WE Lawson JE Loyd 2006 The genetic approach in pulmonary fibrosis: can it provide clues to this complex disease? Proc Am Thorac Soc. 3 345 349 1:CAS:528:DC%2BD28XmtVOksbs%3D 10.1513/pats.200512-137TK 16738199 (Pubitemid 43845411)
33. V Rocha A Devergie G Socie P Ribaud H Esperou N Parquet, et al. 1998 Unusual complications after bone marrow transplantation for dyskeratosis congenita Br J Haematol 103 243 248 1:STN:280:DyaK1M%2Fgs1yjsA%3D%3D 10.1046/j.1365-2141.1998.00949.x 9792316 (Pubitemid 28470826)
34. JA Hackett CW Greider 2002 Balancing instability: dual roles for telomerase and telomere dysfunction in tumorigenesis Oncogene. 21 619 626 1:CAS:528:DC%2BD38Xht1Snurw%3D 10.1038/sj.onc.1205061 11850787
35. SE Artandi S Chang SL Lee S Alson GJ Gottlieb L Chin, et al. 2000 Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice Nature. 406 641 645 1:STN:280:DC%2BD3cvjtVKrug%3D%3D 10.1038/35020592 10949306 (Pubitemid 30641052)
36. BP Alter N Giri SA Savage PS Rosenberg 2009 Cancer in dyskeratosis congenita Blood 113 6549 6557 1:CAS:528:DC%2BD1MXotlWrurY%3D 10.1182/blood-2008-12-192880 19282459
37. RT Calado JN Cooper P Scheinberg C Wu MA Zago H Padilla-Nash, et al. 2009 Telomere shortening promotes chromosomal instability and predicts malignant clonal evolution in aplastic anemia ASH Ann Meet Abstr. 114 3208
38. RT Calado JA Regal M Hills WT Yewdell LF Dalmazzo MA Zago, et al. 2009 Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia Proc Natl Acad Sci USA. 106 1187 1192 1:CAS:528:DC%2BD1MXhsFyisrw%3D 10.1073/pnas.0807057106 19147845
39. X Liu G Bao T Huo Z Wang X He G Dong 2009 Constitutive telomere length and gastric cancer risk: case-control analysis in Chinese Han population Cancer Sci. 100 1300 1305 1:CAS:528:DC%2BD1MXosl2ktbc%3D 10.1111/j.1349-7006.2009. 01169.x 19432888
40. JS Jang YY Choi WK Lee JE Choi SI Cha YJ Kim, et al. 2008 Telomere length and the risk of lung cancer Cancer Sci. 99 1385 1389 1:CAS:528: DC%2BD1cXot1eit7s%3D 10.1111/j.1349-7006.2008.00831.x 18452563 (Pubitemid 351761728)
41. T Rafnar P Sulem SN Stacey F Geller J Gudmundsson A Sigurdsson, et al. 2009 Sequence variants at the TERT-CLPTM1L locus associate with many cancer types Nat Genet 41 221 227 1:CAS:528:DC%2BD1MXntFGlug%3D%3D 10.1038/ng.296 19151717
42. JD McKay RJ Hung V Gaborieau P Boffetta A Chabrier G Byrnes, et al. 2008 Lung cancer susceptibility locus at 5p15.33 Nat Genet 40 1404 1406 1:CAS:528:DC%2BD1cXhsVWhurvL 10.1038/ng.254 18978790
43. RT Calado WT Yewdell KL Wilkerson JA Regal S Kajigaya CA Stratakis, et al. 2009 Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells Blood 114 2236 2243 1:CAS:528: DC%2BD1MXhtFOgtrfN 10.1182/blood-2008-09-178871 19561322
44. BP Alter FH Gardner RE Hall 1997 Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin Br J Haematol 97 309 311 1:CAS:528:DyaK2sXjsl2hs7o%3D 10.1046/j.1365-2141.1997.622717.x 9163594
45. N Giri PA Pitel D Green BP Alter 2007 Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor Br J Haematol 138 815 817 10.1111/j.1365-2141.2007. 06718.x 17760812 (Pubitemid 47313211)
46. J de la Fuente I Dokal 2007 Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation Pediatr Transplant 11 584 594 10.1111/j.1399-3046.2007.00721.x 17663679 (Pubitemid 47174390)
47. Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP et al. Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant. 2010.
48. M Kirwan R Beswick T Vulliamy AC Nathwani AJ Walne C Casimir, et al. 2009 Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients Br J Haematol 144 771 781 1:CAS:528:DC%2BD1MXktVelu74%3D 10.1111/j.1365-2141.2008. 07516.x 19036115
49. S Agarwal YH Loh EM McLoughlin J Huang IH Park JD Miller, et al. 2010 Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients Nature. 464 292 296 1:CAS:528:DC%2BC3cXitFelsrY%3D 10.1038/nature08792 20164838
50. Savage SA, Calado RT, Xin ZT, Ly H, Young NS, Chanock SJ. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol. 2006;34:664-71.
51. 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;112:3594-600.