Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

Nature

Volumn 467, Issue 7313, 2010, Pages 318-322

  Cavazzana Calvo, Marina ^a,b   Payen, Emmanuel ^b,c,d   Negre, Olivier ^b,c,d,e   Wang, Gary ^f   Hehir, Kathleen ^g   Fusil, Floriane ^b,c,d   Down, Julian ^g   Denaro, Maria ^f   Brady, Troy ^f   Westerman, Karen ^g,h   Cavallesco, Resy ^h   Gillet Legrand, Beatrix ^e   Caccavelli, Laure ^a,b   Sgarra, Riccardo ⁱ   Maouche Chrétien, Leila ^c,d   Bernaudin, Françoise ^j   Girot, Robert ^k   Dorazio, Ronald ^g   Mulder, Geert Jan ^g   Polack, Axel ^g   Bank, Arthur ^l   Soulier, Jean ^b   Larghero, Jérôme ^b   Kabbara, Nabil ^b   Dalle, Bruno ^b   Gourmel, Bernard ^b   Socie, Gérard ^b   Chrétien, Stany ^c,d,h   Cartier, Nathalie ^m   Aubourg, Patrick ^m   Fischer, Alain ^a,b   Cornetta, Kenneth ^m   Galacteros, Frédéric ⁿ   Beuzard, Yves ^b,c,d   Gluckman, Eliane ^b   Bushman, Frederick ^f   Hacein Bey Abina, Salima ^a,b   Leboulch, Philippe ^c,d,h   more..

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT DE RADIOPROTECTION ET DE SÛRETÉ NUCLÉAIRE   (France)

^d Institute of Emerging Diseases and Innovative Therapies   (France)

^e CEA   (France)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g Genetix Pharmaceuticals Inc   (United States)

^h BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF TRIESTE   (Italy)

^j CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^k HÔPITAL TENON   (France)

^l Department of Biology Hôpital Tenon ^*  (United States)

^m INSERM   (France)

ⁿ INDIANA UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN; HIGH MOBILITY GROUP A2 PROTEIN; LENTIVIRUS VECTOR; MESSENGER RNA; MICRORNA; HEMOGLOBIN BETA CHAIN; MIRNLET7 MICRORNA, HUMAN;

ANTIGEN; BLOOD SYSTEM DISORDER; DISEASE TREATMENT; GENE TRANSFER; HERITABILITY; PROTEIN; RNA;

ADULT; ANEMIA; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; BONE MARROW CELL; CASE REPORT; CELL CLONE; EARLY CHILDHOOD INTERVENTION; ENZYME ACTIVATION; ERYTHROID CELL; GENE; GENE THERAPY; GENE TRANSFER; GENETIC CODE; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN CELL; MALE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA DEGRADATION; THERAPY EFFECT; TRANSCRIPTION INITIATION; TRANSPLANTATION; TREATMENT INDICATION; ADOLESCENT; ANTIBODY SPECIFICITY; BETA-THALASSEMIA; BLOOD CELL; CYTOLOGY; GENE EXPRESSION; GENE VECTOR; GENETICS; HOMEOSTASIS; LENTIVIRINAE; METABOLISM; PRESCHOOL CHILD; TIME; YOUNG ADULT;

LONCHOCARPUS GLAUCIFOLIUS;

ADOLESCENT; BETA-GLOBINS; BETA-THALASSEMIA; BLOOD CELLS; BLOOD TRANSFUSION; BONE MARROW CELLS; CHILD, PRESCHOOL; CLONE CELLS; GENE EXPRESSION; GENETIC THERAPY; GENETIC VECTORS; HMGA2 PROTEIN; HOMEOSTASIS; HUMANS; LENTIVIRUS; MALE; MICRORNAS; ORGAN SPECIFICITY; RNA, MESSENGER; TIME FACTORS; TRANSCRIPTIONAL ACTIVATION; YOUNG ADULT;

EID: 77956928344     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature09328     Document Type: Article

References (32)

1. Fucharoen, S. & Winichagoon, P. Clinical and hematologic aspects of hemoglobin E b-thalassemia. Curr. Opin. Hematol. 7, 106-112 (2000).
2. Olivieri, N. F. et al. Studies in haemoglobin E b-thalassaemia. Br. J. Haematol. 141, 388-397 (2008).
3. Grosveld, F., van Assendelft, G. B., Greaves, D. R. & Kollias, G. Positionindependent, high-level expression of the human b-globin gene in transgenic mice. Cell 51, 975-985 (1987).
4. Tuan, D. & London, I. M. Mapping of DNase I-hypersensitive sites in the upstream DNA of human embryonic e-globin gene in K562 leukemia cells. Proc. Natl Acad. Sci. USA 81, 2718-2722 (1984).
5. May, C. et al. Therapeutic haemoglobin synthesis in b-thalassaemic mice expressing lentivirus-encoded human b-globin. Nature 406, 82-86 (2000).
6. Pawliuk, R. et al. Correction of sickle cell disease in transgenic mouse models by gene therapy. Science 294, 2368-2371 (2001).
7. Hanawa, H. et al. Extended b-globin locus control region elements promote consistent therapeutic expression of a c-globin lentiviral vector in murine b-thalassemia. Blood 104, 2281-2290 (2004).
8. Imren, S. et al. Permanent and panerythroid correction of murine b thalassemia by multiple lentiviral integration in hematopoietic stem cells. Proc. Natl Acad. Sci. USA 99, 14380-14385 (2002).
9. Levasseur, D. N., Ryan, T. M., Pawlik, K. M. & Townes, T. M. Correction of a mouse model of sickle cell disease: lentiviral/antisickling b-globin gene transduction of unmobilized, purified hematopoietic stem cells. Blood 102, 4312-4319 (2003).
10. Malik, P., Arumugam, P. I., Yee, J. K.&Puthenveetil, G. Successful correction of the human Cooleys anemia b-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator. Ann. NY Acad. Sci. 1054, 238-249 (2005).
11. Chung, J. H., Whiteley, M. & Felsenfeld, G. A 59 element of the chicken b-globin domain serves as an insulator in human erythroid cells and protects against position effect in Drosophila. Cell 74, 505-514 (1993).
12. Miccio, A. et al. In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of b-thalassemia. Proc. Natl Acad. Sci. USA 105, 10547-10552 (2008).
13. Cleynen, I. & Van de Ven, W. J. The HMGA proteins: a myriad of functions. Int. J. Oncol. 32, 289-305 (2008).
14. Lee, Y., Jeon, K., Lee, J. T., Kim, S. & Kim, V. N. MicroRNA maturation: stepwise processing and subcellular localization. EMBO J. 21, 4663-4670 (2002).
15. Sadelain, M. Recent advances in globin gene transfer for the treatment of b-thalassemia and sickle cell anemia. Curr. Opin. Hematol. 13, 142-148 (2006).
16. Hargrove, P. W. et al. Globin lentiviral vector insertions can perturb the expression of endogenous genes in b-thalassemic hematopoietic cells. Mol. Ther. 16, 525-533 (2008).
17. Arumugam, P. I. et al. Genotoxic potential of lineage-specific lentivirus vectors carrying the b-globin locus control region. Mol. Ther. 17, 1929-1937 (2009).
18. Hanawa, H., Yamamoto, M., Zhao, H., Shimada, T. & Persons, D. A. Optimized lentiviral vector design improves titer and transgene expression of vectors containing the chicken b-globin locus HS4 insulator element. Mol. Ther. 17, 667-674 (2009).
19. Sieburg, H. B. et al. The hematopoietic stem compartment consists of a limited number of discrete stem cell subsets. Blood 107, 2311-2316 (2006).
20. Dykstra, B. et al. Long-term propagation of distinct hematopoietic differentiation programs in vivo. Cell Stem Cell 1, 218-229 (2007).
21. Abkowitz, J. L., Catlin, S. N. & Guttorp, P. Evidence that hematopoiesis may be a stochastic process in vivo. Nature Med. 2, 190-197 (1996).
22. Bottardi, S. et al. Lineage-specific transcription factors inmultipotenthematopoietic progenitors: a little bit goes a long way. Cell Cycle 6, 1035-1039 (2007).
23. Ott, M. G. et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nature Med. 12, 401-409 (2006).
24. Hacein-Bey-Abina, S. et al. Insertional oncogenesis in 4 patients after retrovirusmediated gene therapy of SCID-X1. J. Clin. Invest. 118, 3132-3142 (2008).
25. Inoue, N. et al. Molecular basis of clonal expansion of hematopoiesis in 2 patients with paroxysmal nocturnal hemoglobinuria (PNH). Blood 108, 4232-4236 (2006).
26. Viswanathan, S. R. et al. Lin28 promotes transformation and is associated with advanced human malignancies. Nature Genet. 41, 843-848 (2009).
27. Kustikova, O. S. et al. Retroviral vector insertion sites associated with dominant hematopoietic clones mark stemness pathways. Blood 109, 1897-1907 (2007).
28. Cartier, N. et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326, 818-823 (2009).
29. Cassani, B. et al. Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. Blood 114, 3546-3556 (2009).
30. Wang, G. P. et al. Dynamics of gene-modified progenitor cells analyzed by tracking retroviral integration sites in a human SCID-X1 gene therapy trial. Blood 115, 4356-4366 (2010).
31. Cattaruzzi, G. et al. The second AT-hook of the architectural transcription factor HMGA2is determinant for nuclear localization and function. Nucleic Acids Res. 35, 1751-1760 (2007).
32. Wang, G. P. et al. DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer. Nucleic Acids Res. 36, e49 (2008).