Abstract：Objective To investigate the change in telomere length and TERC and TERT mutations in peripheral blood leukocytes of children with chronic aplastic anemia (CAA). Methods Sixty-nine children with CAA were divided into u ntreated group (n=24) who did not receive immunosuppressive therapy (IST), response group (n=36) who showed response to IST, and non-response group (n=9) who showed no response to IST; another 35 healthy children matched for age and sex were selected as the control group. The telomere-to-single copy gene (T/S) ratio in peripheral blood leukocytes was measured by real-time PCR in all groups. PCR was performed to detect TERC and TERT mutations in all children with CAA. Results The untreated and non-response groups had significantly lower T/S ratios than the control and response groups (PP>0.05). TERC and TERT mutations were not found in all children with CAA. Conclusions The change in telomere length in children with CAA may be related to the development and progression of disease. Telomere length measurement may be used as a prognostic indicator in children with CAA.
WANG Xi-Ge,WANG Xuan,LIU Song et al. Telomere length and telomerase mutations in peripheral blood leukocytes of children with chronic aplastic anemia[J]. CJCP, 2014, 16(4): 375-379.
Gil ME, Coetzer TL. Real-time quantitative PCR of telomere length[J]. Mol biotechnol, 2004, 27(2): 169-172.
[6]
Vulliamy T, Marrone A, Dokal I, et al. Association between aplastic anaemia and mutations in telomerase RNA[J]. Lancet, 2002, 359(9324): 2168-2170.
[7]
Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia[J]. N Engl J Med, 2005, 352(14): 1413-1424.
[8]
Georgin-Lavialle S, Aouba A, Mouthon L, et al. The telomere/telomerase system in autoimmune and systemic immune-mediated diseases[J]. Autoimmun Rev, 2010, 9(10): 646-651.
[9]
Fleisig HB, Wong JMY. Telomerase as a clinical target:current strategies and potential applications[J]. Exp Gerontol, 2007, 42(1): 102-112.
[10]
Scheinberg P, Cooper JN, Sloand EM, et al. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia[J]. JAMA, 2010, 304(12): 1358-1364.
[11]
Field JJ, Mason PJ, An P, et al. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome[J]. J Pediatr Hematol Oncol, 2006, 28(7): 450-453.
[12]
Liang J, Yagasaki H, Kamachi Y, et al. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia[J]. Haematologica, 2006, 91(5): 656-658.
Zhao YM, Li JY, Lan JP, et al. Cell cycle dependent telomere regulation by telomerase in human bone marrow mesenchymal stem cells[J]. Biochem Biophys Res Commun, 2008, 369(4): 1114-1119.
[15]
Bekaert S, De Meyer T, Rietzschel ER, et al. Telomere length and cardiovascular risk factors in a middle-aged population free of overt cardiovascular disease[J]. Aging cell, 2007, 6(5): 639-647.
