Genetic correction of sickle cell anemia and β-thalassemia: Progress and new perspective

TheScientificWorldJournal

Volumn 10, Issue , 2010, Pages 644-654

  Perumbeti, Ajay ^a   Malik, Punam ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

globin; thalassemia; globin; Embryonic stem cells; Gene therapy; Hematopoietic stem cells; Hemoglobinopathies; Inducible pluripotent stem cells; Insertional mutagenesis; Lentivirus; Retrovirus; Sickle cell anemia; Sickle cell disease

Indexed keywords

BETA GLOBIN; LENTIVIRUS VECTOR;

BETA THALASSEMIA; CHROMATIN; GENE; GENE EXPRESSION; GENE THERAPY; GENE TRANSFER; GENOTOXICITY; HEMOGLOBINOPATHY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS; IN VITRO STUDY; LONG TERMINAL REPEAT; MYELODYSPLASTIC SYNDROME; NONHUMAN; PHENOTYPE; PLURIPOTENT STEM CELL; REGULATOR GENE; REVIEW; SICKLE CELL ANEMIA;

ANEMIA, SICKLE CELL; ANIMALS; BETA-THALASSEMIA; GENE THERAPY; GENETIC VECTORS; HUMANS; LENTIVIRUS; MICE; RECOMBINATION, GENETIC;

LENTIVIRUS; MURINAE;

EID: 77952826869     PISSN: None     EISSN: 1537744X     Source Type: Journal    
DOI: 10.1100/tsw.2010.67     Document Type: Review

References (53)

1. Kauf, T.L., Coates, T.D., Huazhi, L., Mody-Patel, N., and Hartzema, A.G. (2009) The cost of health care for children and adults with sickle cell disease. Am. J. Hematol. 84(6), 323-327.
2. Aiuti, A. et al. (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med. 360(5), 447-458.
3. Hacein-Bey-Abina, S. et al. (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346(16), 1185-1193. (Pubitemid 34984579)
4. Gaspar, H.B. et al. (2004) Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364(9452), 2181-2187. (Pubitemid 40018447)
5. Ott, M.G. et al. (2006) Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat. Med. 12(4), 401-409.
6. Perumbeti, A. et al. (2009) A novel human gamma-globin gene vector for genetic correction of sickle cell anemia in a humanized sickle mouse model: critical determinants for successful correction. Blood 114(6), 1174-1185.
7. Arumugam, P.I. et al. (2007) Improved human beta-globin expression from self-inactivating lentiviral vectors carrying the chicken hypersensitive site-4 (cHS4) insulator element. Mol. Ther. 15(10), 1863-1871.
8. Rivella, S., May, C., Chadburn, A., Riviere, I., and Sadelain, M. (2003) A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood 101(8), 2932-2939. (Pubitemid 36857977)
9. Mohamedali, A. et al. (2004) Self-inactivating lentiviral vectors resist proviral methylation but do not confer position-independent expression in hematopoietic stem cells. Mol. Ther. 10(2), 249-259. (Pubitemid 39117871)
10. Challita, P.M. and Kohn, D.B. (1994) Lack of expression from a retroviral vector after transduction of murine hematopoietic stem cells is associated with methylation in vivo. Proc. Natl. Acad. Sci. U. S. A. 91(7), 2567-2571.
11. Stein, S. et al. (2010) Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat. Med. 16(2), 198-204.
12. May, C. et al. (2000) Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature 406(6791), 82-86.
13. Ciavatta, D.J., Ryan, T.M., Farmer, S.C., and Townes, T.M. (1995) Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A. 92(20), 9259-9263.
14. Imren, S. et al. (2002) Permanent and panerythroid correction of murine beta thalassemia by multiple lentiviral integration in hematopoietic stem cells. Proc. Natl. Acad. Sci. U. S. A. 99(22), 14380-14385. (Pubitemid 35257680)
15. Emery, D.W. et al. (2002) Development of virus vectors for gene therapy of beta chain hemoglobinopathies: flanking with a chromatin insulator reduces gamma-globin gene silencing in vivo. Blood 100(6), 2012-2019.
16. Persons, D.A., Hargrove, P.W., Allay, E.R., Hanawa, H., and Nienhuis, A.W. (2003) The degree of phenotypic correction of murine beta-thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number. Blood 101(6), 2175-2183. (Pubitemid 36302055)
17. Puthenveetil, G. et al. (2004) Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector. Blood 104(12), 3445-3453. (Pubitemid 39564412)
18. Miccio, A. et al. (2008) In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of beta-thalassemia. Proc. Natl. Acad. Sci. U. S. A. 105(30), 10547-10552.
19. Lisowski, L. and Sadelain, M. (2007) Locus control region elements HS1 and HS4 enhance the therapeutic efficacy of globin gene transfer in beta-thalassemic mice. Blood 110(13), 4175-4178. (Pubitemid 351377780)
20. Hanawa, H. et al. (2004) Extended beta-globin locus control region elements promote consistent therapeutic expression of a gamma-globin lentiviral vector in murine beta-thalassemia. Blood 104(8), 2281-2290. (Pubitemid 39331824)
21. Kaiser, J. (2009) Gene therapy. Beta-thalassemia treatment succeeds, with a caveat. Science 326(5959), 1468-1469.
22. Ye, L. et al. (2009) Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases. Proc. Natl. Acad. Sci. U. S. A. 106(24), 9826-9830.
23. Nishino, T., Tubb, J., and Emery, D.W. (2006) Partial correction of murine beta-thalassemia with a gammaretrovirus vector for human gamma-globin. Blood Cells Mol. Dis. 37(1), 1-7. (Pubitemid 44062363)
24. Pawliuk, R. et al. (2001) Correction of sickle cell disease in transgenic mouse models by gene therapy [see comment]. Science 294(5550), 2368-2371. (Pubitemid 33140563)
25. Levasseur, D.N., Ryan, T.M., Pawlik, K.M., and Townes, T.M. (2003) Correction of a mouse model of sickle cell disease: lentiviral/antisickling beta-globin gene transduction of unmobilized, purified hematopoietic stem cells. Blood 102(13), 4312-4319.
26. Wu, L.C. et al. (2006) Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood 108(4), 1183-1188. (Pubitemid 44232013)
27. Hanna, J. et al. (2007) Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin [see comment]. Science 318(5858), 1920-1923.
28. Paszty, C. et al. (1997) Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease. Science 278(5339), 876-878. (Pubitemid 27467927)
29. McCune, S.L., Reilly, M.P., Chomo, M.J., Asakura, T., and Townes, T.M. (1994) Recombinant human hemoglobins designed for gene therapy of sickle cell disease. Proc. Natl. Acad. Sci. U. S. A. 91(21), 9852-9856. (Pubitemid 24311906)
30. Levasseur, D.N. et al. (2004) A recombinant human hemoglobin with anti-sickling properties greater than fetal hemoglobin. J. Biol. Chem. 279(26), 27518-27524.
31. Oh, I.H. et al. (2004) Expression of an anti-sickling beta-globin in human erythroblasts derived from retrovirally transduced primitive normal and sickle cell disease hematopoietic cells. Exp. Hematol. 32(5), 461-469.
32. Samakoglu, S. et al. (2006) A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference. Nat. Biotechnol. 24(1), 89-94. (Pubitemid 43083171)
33. Pestina, T.I. et al. (2009) Correction of murine sickle cell disease using gamma-globin lentiviral vectors to mediate high-level expression of fetal hemoglobin. Mol. Ther. 17(2), 245-252.
34. Qiu, C., Olivier, E.N., Velho, M., and Bouhassira, E.E. (2008) Globin switches in yolk sac-like primitive and fetal-like definitive red blood cells produced from human embryonic stem cells. Blood 111(4), 2400-2408. (Pubitemid 351451453)
35. Lengerke, C. et al. (2009) Hematopoietic development from human induced pluripotent stem cells. Ann. N. Y. Acad. Sci. 1176, 219-227.
36. Maruggi, G. et al. (2009) Transcriptional enhancers induce insertional gene deregulation independently from the vector type and design. Mol. Ther. 17(5), 851-856.
37. Imren, S. et al. (2004) High-level beta-globin expression and preferred intragenic integration after lentiviral transduction of human cord blood stem cells. J. Clin. Invest. 114(7), 953-962. (Pubitemid 39578723)
38. Hargrove, P.W. et al. (2008) Globin lentiviral vector insertions can perturb the expression of endogenous genes in beta-thalassemic hematopoietic cells. Mol. Ther. 16(3), 525-533.
39. Li, C.L., Xiong, D., Stamatoyannopoulos, G., and Emery, D.W. (2009) Genomic and functional assays demonstrate reduced gammaretroviral vector genotoxicity associated with use of the cHS4 chromatin insulator. Mol. Ther. 17(4), 716-724.
40. Jimenez, G., Griffiths, S.D., Ford, A.M., Greaves, M.F., and Enver, T. (1992) Activation of the beta-globin locus control region precedes commitment to the erythroid lineage. Proc. Natl. Acad. Sci. U. S. A. 89(22), 10618-10622.
41. Arumugam, P.I. et al. (2009) Genotoxic potential of lineage-specific lentivirus vectors carrying the beta-globin locus control region. Mol. Ther. 17(11), 1929-1937.
42. Challita, P.M. et al. (1995) Multiple modifications in cis elements of the long terminal repeat of retroviral vectors lead to increased expression and decreased DNA methylation in embryonic carcinoma cells. J. Virol. 69(2), 748-755.
43. Osborne, C.S. et al. (1999) Amelioration of retroviral vector silencing in locus control region beta-globin-transgenic mice and transduced F9 embryonic cells. J. Virol. 73(7), 5490-5496.
44. Aker, M. et al. (2007) Extended core sequences from the cHS4 insulator are necessary for protecting retroviral vectors from silencing position effects. Hum. Gene Ther. 18(4), 333-343. (Pubitemid 46709345)
45. Arumugam, P.I. et al. (2009) The 3′ region of the chicken hypersensitive site-4 insulator has properties similar to its core and is required for full insulator activity. PLoS One 4(9), e6995.
46. Thrasher, A.J. et al. (2006) Gene therapy: X-SCID transgene leukaemogenicity. Nature 443(7109), E5-E6. (Pubitemid 44435140)
47. Hacein-Bey-Abina, S. et al. (2008) Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest. 118(9), 3132-3142.
48. Howe, S.J. et al. (2008) Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients. J. Clin. Invest. 118(9), 3143-3150.
49. Ryu, B.Y., Persons, D.A., Evans-Galea, M.V., Gray, J.T., and Nienhuis, A.W. (2007) A chromatin insulator blocks interactions between globin regulatory elements and cellular promoters in erythroid cells. Blood Cells Mol. Dis. 39(3), 221-228.
50. Ryu, B.Y., Persons, D.A., and Nienhuis, A.W. (2006) The influence of chromatin insulator on interactins between globin regulatory elements and cellular promoters in erythroid cells. Mol. Ther. 13(Suppl. 1), S406.
51. Evans-Galea, M.V., Wielgosz, M.M., Hanawa, H., Srivastava, D.K., and Nienhuis, A.W. (2007) Suppression of clonal dominance in cultured human lymphoid cells by addition of the cHS4 insulator to a lentiviral vector. Mol. Ther. 15(4), 801-809.
52. Zychlinski, D. et al. (2008) Physiological promoters reduce the genotoxic risk of integrating gene vectors. Mol. Ther. 16(4), 718-725.
53. Urbinati, F. et al. (2009) Mechanism of reduction in titers from lentivirus vectors carrying large inserts in the 3′LTR. Mol. Ther. 17(9), 1527-1536.