Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis

Molecular Therapy

Volumn 21, Issue 2, 2013, Pages 433-444

  Harrison, Frank ^a   Yeagy, Brian A ^a   Rocca, Celine J ^a   Kohn, Donald B ^b   Salomon, Daniel R ^a   Cherqui, Stephanie ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CREATININE; CYSTINE; CYSTINOSIN; ENHANCED GREEN FLUORESCENT PROTEIN; GENE THERAPY AGENT; HYBRID PROTEIN; LENTIVIRUS VECTOR; PHOSPHATE; UNCLASSIFIED DRUG; UREA; VIRUS DNA;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLOOD ANALYSIS; BONE MARROW CELL; CELL DIFFERENTIATION; CLINICAL EFFECTIVENESS; CONTROLLED STUDY; CREATININE CLEARANCE; CYSTINOSIN GENE; CYSTINOSIS; EX VIVO GENE TRANSFER; FEMALE; GENE EXPRESSION; GENETIC TRANSDUCTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; KIDNEY FUNCTION TEST; MALE; MOUSE; NONHUMAN; PHOSPHATE BLOOD LEVEL; PHOSPHATE URINE LEVEL; SEX DIFFERENCE; STEM CELL GENE THERAPY; TISSUE LEVEL; TRANSGENE; UREA BLOOD LEVEL; URINALYSIS; URINE VOLUME; VIRAL GENE DELIVERY SYSTEM;

MURINAE; MUS;

EID: 84873405297     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2012.214     Document Type: Article

References (50)

1. Krivit, W, Aubourg, P, Shapiro, E and Peters, C (1999). Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol 6: 377-382.
2. Johnston, L (2008). Acute graft-versus-host disease: differing risk with differing graft sources and conditioning intensity. Best Pract Res Clin Haematol 21: 177-192.
3. Pallera, AM and Schwartzberg, LS (2004). Managing the toxicity of hematopoietic stem cell transplant. J Support Oncol 2: 223-37; discussion 237.
4. Cutler, C, Li, S, Ho, V T, Koreth, J, Alyea, E, Soiffer, RJ et al. (2007). Extended follow-up of methotrexate-free immunosuppression using sirolimus and tacrolimus in related and unrelated donor peripheral blood stem cell transplantation. Blood 109: 3108-3114.
5. Geyer, MB, Jacobson, JS, Freedman, J, George, D, Moore, V, van de Ven, C et al. (2011). A comparison of immune reconstitution and graft-versus-host disease following myeloablative conditioning versus reduced toxicity conditioning and umbilical cord blood transplantation in paediatric recipients. Br J Haematol 155: 218-234.
6. Schleuning, M, Judith, D, Jedlickova, Z, Stübig, T, Heshmat, M, Baurmann, H et al. (2009). Calcineurin inhibitor-free GVHD prophylaxis with sirolimus, mycophenolate mofetil and ATG in Allo-SCT for leukemia patients with high relapse risk: an observational cohort study. Bone Marrow Transplant 43: 717-723.
7. Magauran, CE and Salgado, CD (2011). Challenges and advances in infection control of hematopoietic stem cell transplant recipients. Infect Disord Drug Targets 11: 18-26.
8. Wingard, JR, Hsu, J and Hiemenz, JW (2010). Hematopoietic stem cell transplantation: an overview of infection risks and epidemiology. Infect Dis Clin North Am 24: 257-272.
9. Cherqui, S (2012). Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int 81: 127-129.
10. Cherqui, S, Kalatzis, V, Trugnan, G and Antignac, C (2001). The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif. J Biol Chem 276: 13314-13321.
11. Kalatzis, V, Cherqui, S, Antignac, C and Gasnier, B (2001). Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J 20: 5940-5949.
12. Town, M, Jean, G, Cherqui, S, Attard, M, Forestier, L, Whitmore, SA et al. (1998). A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18: 319-324.
13. Gahl, WA, Thoene, JG and Schneider, JA (2002). Cystinosis. N Engl J Med 347: 111-121.
14. Kleta, R, Bernardini, I, Ueda, M, Varade, WS, Phornphutkul, C, Krasnewich, D et al. (2004). Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 145: 555-560.
15. Greco, M, Brugnara, M, Zaffanello, M, Taranta, A, Pastore, A and Emma, F (2010). Long-term outcome of nephropathic cystinosis: a 20-year single-center experience. Pediatr Nephrol 25: 2459-2467.
16. Cherqui, S, Sevin, C, Hamard, G, Kalatzis, V, Sich, M, Pequignot, MO et al. (2002). Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22: 7622-7632.
17. Syres, K, Harrison, F, Tadlock, M, Jester, J V, Simpson, J, Roy, S et al. (2009). Successful treatment of the murine model of cystinosis using bone marrow cell transplantation. Blood 114: 2542-2552.
18. Yeagy, BA, Harrison, F, Gubler, MC, Koziol, JA, Salomon, DR and Cherqui, S (2011). Kidney preservation by bone marrow cell transplantation in hereditary nephropathy. Kidney Int 79: 1198-1206.
19. Case, SS, Price, MA, Jordan, CT, Yu, XJ, Wang, L, Bauer, G et al. (1999). Stable transduction of quiescent CD34(+)CD38(-) human hematopoietic cells by HIV-1-based lentiviral vectors. Proc Natl Acad Sci USA 96: 2988-2993.
20. Miyoshi, H, Smith, KA, Mosier, DE, Verma, IM and Torbett, BE (1999). Transduction of human CD34+ cells that mediate long-term engraftment of NOD/SCID mice by HIV vectors. Science 283: 682-686.
21. Naldini, L, Blömer, U, Gallay, P, Ory, D, Mulligan, R, Gage, FH et al. (1996). In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science 272: 263-267.
22. Verma, IM and Somia, N (1997). Gene therapy-promises, problems and prospects. Nature 389: 239-242.
23. Gonzalez-Murillo, A, Lozano, ML, Montini, E, Bueren, JA and Guenechea, G (2008). Unaltered repopulation properties of mouse hematopoietic stem cells transduced with lentiviral vectors. Blood 112: 3138-3147.
24. Logan, AC, Lutzko, C and Kohn, DB (2002). Advances in lentiviral vector design for gene-modifcation of hematopoietic stem cells. Curr Opin Biotechnol 13: 429-436.
25. Montini, E, Cesana, D, Schmidt, M, Sanvito, F, Bartholomae, CC, Ranzani, M et al. (2009). The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy. J Clin Invest 119: 964-975.
26. Sinn, PL, Sauter, SL and McCray, PB Jr (2005). Gene therapy progress and prospects: development of improved lentiviral and retroviral vectors-design, biosafety, and production. Gene Ther 12: 1089-1098.
27. Biff, A, De Palma, M, Quattrini, A, Del Carro, U, Amadio, S, Visigalli, I et al. (2004). Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modifed hematopoietic stem cells. J Clin Invest 113: 1118-1129.
28. Kim, EY, Hong, YB, Lai, Z, Cho, YH, Brady, RO and Jung, SC (2005). Long-term expression of the human glucocerebrosidase gene in vivo after transplantation of bone-marrow-derived cells transformed with a lentivirus vector. J Gene Med 7: 878-887.
29. van Til, N P, Stok, M, Aerts Kaya, FS, de Waard, MC, Farahbakhshian, E, Visser, TP et al. (2010). Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. Blood 115: 5329-5337.
30. Visigalli, I, Delai, S, Politi, LS, Di Domenico, C, Cerri, F, Mrak, E et al. (2010). Gene therapy augments the effcacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model. Blood 116: 5130-5139.
31. Cartier, N, Hacein-Bey-Abina, S, Bartholomae, CC, Veres, G, Schmidt, M, Kutschera, I et al. (2009). Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 326: 818-823.
32. Hacein-Bey-Abina, S, Garrigue, A, Wang, GP, Soulier, J, Lim, A, Morillon, E et al. (2008). Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest 118: 3132-3142.
33. Hippert, C, Dubois, G, Morin, C, Disson, O, Ibanes, S, Jacquet, C et al. (2008). Gene transfer may be preventive but not curative for a lysosomal transport disorder. Mol Ther 16: 1372-1381.
34. Bhatia, M, Bonnet, D, Kapp, U, Wang, JC, Murdoch, B and Dick, JE (1997). Quantitative analysis reveals expansion of human hematopoietic repopulating cells after short-term ex vivo culture. J Exp Med 186: 619-624.
35. Dick, JE, Bhatia, M, Gan, O, Kapp, U and Wang, JC (1997). Assay of human stem cells by repopulation of NOD/SCID mice. Stem Cells 15 (suppl. 1): 199-203; discussion 204.
36. Di Domenico, C, Villani, GR, Di Napoli, D, Reyero, EG, Lombardo, A, Naldini, L et al. (2005). Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther 16: 81-90.
37. Kosuga, M, Takahashi, S, Sasaki, K, Li, XK, Fujino, M, Hamada, H et al. (2000). Adenovirus-mediated gene therapy for mucopolysaccharidosis VII: involvement of cross-correction in wide-spread distribution of the gene products and long-term effects of CTLA-4Ig coexpression. Mol Ther 1(5 Pt 1): 406-413.
38. Sun, H, Yang, M, Haskins, ME, Patterson, DF and Wolfe, JH (1999). Retrovirus vector-mediated correction and cross-correction of lysosomal alpha-mannosidase defciency in human and feline fbroblasts. Hum Gene Ther 10: 1311-1319.
39. Tsuji, D, Kuroki, A, Ishibashi, Y, Itakura, T and Itoh, K (2005). Metabolic correction in microglia derived from Sandhoff disease model mice. J Neurochem 94: 1631-1638.
40. Camussi, G, Deregibus, MC, Bruno, S, Cantaluppi, V and Biancone, L (2010). Exosomes/microvesicles as a mechanism of cell-to-cell communication. Kidney Int 78: 838-848.
41. Zomer, A, Vendrig, T, Hopmans, ES, van Eijndhoven, M, Middeldorp, JM and Pegtel, DM (2010). Exosomes: Fit to deliver small RNA. Commun Integr Biol 3: 447-450.
42. Valadi, H, Ekström, K, Bossios, A, Sjöstrand, M, Lee, JJ and Lötvall, JO (2007). Exosome-mediated transfer of mRNAs and microRNAs is a novel mechanism of genetic exchange between cells. Nat Cell Biol 9: 654-659.
43. Belting, M and Wittrup, A (2008). Nanotubes, exosomes, and nucleic acid-binding peptides provide novel mechanisms of intercellular communication in eukaryotic cells: implications in health and disease. J Cell Biol 183: 1187-1191.
44. Aliotta, JM, Sanchez-Guijo, FM, Dooner, GJ, Johnson, KW, Dooner, MS, Greer, KA et al. (2007). Alteration of marrow cell gene expression, protein production, and engraftment into lung by lung-derived microvesicles: a novel mechanism for phenotype modulation. Stem Cells 25: 2245-2256.
45. Camussi, G, Deregibus, MC and Tetta, C (2010). Paracrine/endocrine mechanism of stem cells on kidney repair: role of microvesicle-mediated transfer of genetic information. Curr Opin Nephrol Hypertens 19: 7-12.
46. Onfelt, B, Nedvetzki, S, Benninger, RK, Purbhoo, MA, Sowinski, S, Hume, AN et al. (2006). Structurally distinct membrane nanotubes between human macrophages support long-distance vesicular traffc or surfng of bacteria. J Immunol 177: 8476-8483.
47. Dull, T, Zufferey, R, Kelly, M, Mandel, RJ, Nguyen, M, Trono, D et al. (1998). A third-generation lentivirus vector with a conditional packaging system. J Virol 72: 8463-8471.
48. Zychlinski, D, Schambach, A, Modlich, U, Maetzig, T, Meyer, J, Grassman, E et al. (2008). Physiological promoters reduce the genotoxic risk of integrating gene vectors. Mol Ther 16: 718-725.
49. Carbonaro, DA, Jin, X, Petersen, D, Wang, X, Dorey, F, Kil, KS et al. (2006). In vivo transduction by intravenous injection of a lentiviral vector expressing human ADA into neonatal ADA gene knockout mice: a novel form of enzyme replacement therapy for ADA defciency. Mol Ther 13: 1110-1120.
50. Kustikova, OS, Modlich, U and Fehse, B (2009). Retroviral insertion site analysis in dominant haematopoietic clones. Methods Mol Biol 506: 373-390.