Telomere and telomerase in hematological disorders Focusing on bone marrow failure syndromes and hematological malignancies

Mardiah Suci Hardianti; Ibnu Purwanto; Johan Kurnianda

doi:10.22146/acta interna.16928

Telomere and telomerase in hematological disorders Focusing on bone marrow failure syndromes and hematological malignancies

https://doi.org/10.22146/acta%20interna.16928

Mardiah Suci Hardianti^(1*), Ibnu Purwanto⁽²⁾, Johan Kurnianda⁽³⁾

(1)
(2)
(3)
(*) Corresponding Author

Abstract

ABSTRACT
We review the present knowledge of telomeres and telomerase with special attention to their role in hematological disorders especially bone marrow failure syndromes including acquired aplastic anemia and myelodysplastic syndromes, as well as acute and chronic myeloid leukemia. The current understanding on the role of telomere and telomeres dysfunctions in hematological disorders leads us to a better understanding on the pathology of the diseases as well as considering some possibilities to employ the measurement of telomere length and telomere activity in disease prognostication. Several treatment options targeting telomere and telomerase being developed are also reviewed.

Keywords: telomere- telomerase- bone marrow failure syndromes- hematological malignancies

Full Text:

PDF

References

REFERENCES

Calado RT and Young NS. Telomere diseases. N Engl J Med. 2009; 361(24):2353-65.

Carroll KA and Ly H. Telomere Dysfunction in Human Diseases: The Long and Short of It! Int J Clin Exp Pathol. 2009; 2: 528-543.

Blackburn EH. Telomeres and Telomerase: The Means to the End. Nobel Lecture, December 7, 2009. Source: http://www.nobelprize.org/nobel_prizes/medicine/laureates/2009/blackburn-lecture.html

Elwood NJ. Telomere Biology of Human Hematopoietic Stem Cells. Cancer Control. 2004; 11(2):77-85

Ly H. Telomere dynamics in induced pluripotent stem cells: Potentials for human disease modeling. 2011; 3(10): 89-95.

Gančarčíková M, Zemanová Z, Březinová J, Berková A, Včelíková S, Šmigová J, Michalová K. The Role of Telomeres and Telomerase Complex in Haematological Neoplasia: The Length of Telomeres as a Marker of Carcinogenesis and Prognosis of Disease. Prague Medical Report. 2010; 111(2): 91–105. Charles University in Prague – Karolinum Press.

Herbert BS, Shay JW, Wright WE. Analysis of Telomeres and Telomerase. Current Protocols in Cell Biology. 2003. Source: http://www.currentprotocols.com/WileyCDA/CurPro3Title/isbn-0471143030.html

Young NS. Telomere Biology and Telomere Diseases: Implications for Practice and Research. Hematology Am Soc Hematol Educ Program. 2010; 30-5.

Blackburn EH, Greider CW, Szostak JW. Telomeres and telomerase: the path from maize, tetrahymena and yeast to human cancer and aging. Nat Med. 2006; 12:1133–1138.

Hackett JA, Feldser DM, Greider CW. Telomere dysfunction increases mutation rate and genomic instability. Cell. 2001; 106: 275–286.

Artandi SE, Chang S, Lee S-L, et al. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature. 2000; 406:641– 645.

Artandi SE and DePinho RA. Telomeres and telomerase in cancer. Carcinogenesis. 2010;31(1):9–18.

Shen J, Gammon MD, Terry MB, Wang Q, Bradshaw P, Teitelbaum SL, Neugut AI, Santella RM. Telomere length, oxidative damage, antioxidants and breast cancer risk. Int J Cancer. 2009; 124(7):1637-43.

Risques RA, Baughan TL, Li X, et al. Leukocyte telomere length predicts cancer risk in Barrett’s esophagus. Cancer Epidemiol Biomarkers Prev. 2007; 16:2649 –2655.

Artandi SE. Complex roles for telomeres and telomerase in breast carcinogenesis. Breast Cancer Res 2003, 5:37-41

O’Sullivan JN, Bronner MP, Brentnall TA, et al. Chromosomal instability in ulcerative colitis is related to telomere shortening. Nat Genet. 2002; 32:280 –284.

Vulliamy T, Dokal I. Dyskeratosis congenita. Semin Hematol. 2006; 43:157-166.

Vulliamy T, Marrone A, Goldman F, et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001; 413:432-435.

Walne AJ, Vulliamy T, Marrone A, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007; 16:1619-1629.

Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008; 111(9):4446-55.

Young NS, Calado RT, Scheinberg P. Current concepts in the pathophysiology and treatment of aplastic anemia. Blood. 2006; 108:2511-2521.

Ball SE, Gibson FM, Rizzo S, et al. Progressive telomere shortening in aplastic anemia. Blood. 1998; 91:3582-3592.

Brummendorf TH, Maciejewski JP, Young NS, Lansdorp PL. Telomere length in leukocyte subpopulations of patients with aplastic anemia. Blood. 2001; 97:895-900.

Lee JJ, Kook H, Chung IJ, et al. Telomere length changes in patients with aplastic anaemia. Br J Haematol. 2001; 112:1025-1030.

Ly H, Calado RT, Allard P, et al. Functional characterization of telomerase RNA variants found in patients with hematological disorders. Blood. 2005; 105:2332-2339.

Yamaguchi H, Baerlocher GM, Lansdorp PM, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003; 102:916-918.

Calado RT, Pintao MC, Silva WA, Falcao RP, Zago MA. Aplastic anaemia and telomerase RNA mutations. Lancet. 2002; 360:1608.

Fogarty PF, Yamaguchi H, Wiestner A, et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet. 2003; 362:1628-1630.

Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352:1413-1424.

Vulliamy T, Walne A, Baskaradas A, et al. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005; 34:257- 263.

Savage SA, Calado RT, Xin Z-T, et al. Genetic variation in telomeric repeat binding factor 1 and 2 in aplastic anemia. Exp Hematol. 2006; 34: 664-671.

Risitano AM, Maciejewski JP, Green S, et al. In-vivo dominant immune responses in aplastic anaemia: molecular tracking of putatively pathogenetic T-cell clones by TCR beta-CDR3 sequencing. Lancet. 2004; 364:355-364.

Calado RT, Bruno T, Wilkerson KL, Young NS. Evidence for T-cell oligoclonal expansion in aplastic anemia associated with telomerase complex mutations: pathophysiological and clinical implications [abstract]. Blood. 2005; 106: 307a. Abstract no. 1052.

Morla M, Busquets X, Pons J, et al. Telomere shortening in smokers with and without COPD. Eur Respir J. 2006; 27:525-528.

Epel ES, Blackburn EH, Lin J, et al. Accelerated telomere shortening in response to life stress. Proc Natl Acad Sci U S A. 2004; 101:17312- 17315.

Notaro R, Cimmino A, Tabarini D, Rotoli B, Luzzatto L. In vivo telomere dynamics of human hematopoietic stem cells. Proc Natl Acad Sci U S A. 1997; 94:13782-13785.

Beeharry N, Brocolli D. Telomere dynamics in response to chemotherapy [abstract]. Curr Mol Med. 2005; 5:187-196.

Ohyashiki JH, Sashida G, Tauchi T, Ohyashiki K. Telomeres and telomerase in hematologic neoplasia. Oncogene. 2002 Jan 21; 21(4):680-7.

Roth A, Vercauteren S, Sutherland HJ et al. Telomerase is limiting the growth of acute myeloid leukemia cells. Leukemia 2003; 17: 2410 –2417.

Calado RT, Regal JA, Hills M, Yewdell WT, Dalmazzo LF, Zago MA, Lansdorp PM, Hogge D, Chanock SJ, Estey EH, FalcÃ£o RP and Young NS. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proc Natl Acad Sci USA 2009; 106:1187-1192.

Grimwade D, Walker H, Oliver F et al. The importance of diagnostic cytogenetics on outcome in AML: Analysis of 1,612 patients entered into the MRC AML 10 trial. Blood 1998; 92:2322–2333.

Hemann MT, Strong MA, Hao LY et al. The shortest telomere, not average telomere length, is critical for cell viability and chromosome stability. Cell 2001; 107:67–77.

Swiggers SJ, Kuijpers MA, de Cort MJ et al. Critically short telomeres in acute myeloid leukemia with loss or gain of parts of chromosomes. Genes Chromosomes Cancer 2006; 45:247–256.

Keller G,Brassat U, Braig M, Heim D, Wege H and Bru¨mmendorf TH. Hematol Oncol 2009; 27: 123–129

Brummendorf TH, Ersoz I, Hartmann U, et al. Telomere length in peripheral blood granulocytes reflects response to treatment with imatinib in patients with chronic myeloid leukemia. Blood 2003; 101(1): 375–376.

Hartmann U, Balabanov S, Ziegler P, et al. Telomere length and telomerase activity in the BCR-ABL-transformed murine Pro-B cell line BaF3 is unaffected by treatment with imatinib. Exp Hematol 2005; 33(5): 542–549.

Calado RT, Yewdell WT, Wilkerson KL, Kajigaya S, Young NS. Sex hormones up-regulate telomerase activity of normal human hematopoietic cells and restore telomerase activity in carriers of telomerase complex mutations [abstract]. Blood 2005; 106:641a. Abstract no. 2276.

Xin ZT, Beauchamp AD, Calado RT, et al. Functional characterization of natural telomerase mutations found in patients with hematological disorders. Blood. 2007; 109:524-532.

Roth A, Vercauteren S, Sutherland HJ, Lansdorp PM. Telomerase is limiting the growth of acute myeloid leukemia cells. Leukemia 2003; 17(12): 2410–2417.

Parsch D, Brassat U, Brummendorf TH, Fellenberg J. Consequences of telomerase inhibition by BIBR1532 on proliferation and chemosensitivity of chondrosarcoma cell lines. Cancer Invest 2008; 26(6): 590–596.

Herbert BS, Gellert GC, Hochreiter A, et al. Lipid modification of GRN163, an N3’–>P5’ thio-phosphoramidate oligonucleotide, enhances the potency of telomerase inhibition. Oncogene 2005; 24(33): 5262–5268.

DOI: https://doi.org/10.22146/acta%20interna.16928