Novel achievements in the search of alternative options for therapy of β-thalassemia

Minerva Biotecnologica

Volumn 21, Issue 4, 2009, Pages 187-196

  Gambari, R ^a  

^a UNIVERSITY OF FERRARA   (Italy)

Author keywords

Beta thalassemia; Gene therapy; Oligonucleotides; Targeted gene repair

Indexed keywords

4,4',6 TRIMETHYLANGELICIN; 5 AZA 2' DEOXYCYTIDINE; 5,7 DIMETHOXYCOUMARIN; ALPHA GLOBIN; ANTIBIOTIC G 418; AZACITIDINE; BERGAPTEN; BETA GLOBIN; BUTYRIC ACID DERIVATIVE; CARMUSTINE; DEXAMETHASONE; DISTAMYCIN A DERIVATIVE; FUROCOUMARIN DERIVATIVE; GAMMA GLOBIN; HEMOGLOBIN A; HEMOGLOBIN F; HYDROXYUREA; LENALIDOMIDE; LENTIVIRUS VECTOR; METHYLATED DNA PROTEIN CYSTEINE METHYLTRANSFERASE; OCTAMER TRANSCRIPTION FACTOR 1; POMALIDOMIDE; RNA; SMALL INTERFERING RNA; STEM CELL FACTOR; THALIDOMIDE; UNCLASSIFIED DRUG;

BETA THALASSEMIA; CELL DIFFERENTIATION; CELL THERAPY; DRUG MECHANISM; DRUG POTENTIATION; DRUG TARGETING; GENE DELETION; GENE EXPRESSION; GENE INDUCTION; GENE TARGETING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; NONHUMAN; NONSENSE MUTATION; REVIEW; RNA INTERFERENCE; RNA REPAIR; SOMATIC CELL THERAPY; SPLICING DEFECT; TREATMENT RESPONSE; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

EID: 77951870280     PISSN: 11204826     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (55)

1. Patrinos GP, Kollia P, Papadakis MN. Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies. Hum Mutat 2005;26:399-412. (Pubitemid 41572447)
2. Leung TN, Lau TK, Chung TKh. Thalassaemia screening in pregnancy. Curr Opin Obstet Gynecol 2005;17:129-134
3. Old JM. Screening and genetic diagnosis of hemoglobin disorders. Blood Rev 2003;17:43-53. (Pubitemid 36176210)
4. Thein SL. Beta-thalassaemia prototype of a single gene disorder with multiple phenotypes. Int J Hematol 2002;76:96-104.
5. Fucharoen S, Winichagoon P. Thalassemia and abnormal hemoglobin. Int J Hematol 2002;76:83-89
6. Gambari R, Fibach E. Medicinal chemistry of fetal hemoglobin inducers for treatment of beta-thalassemia. Curr Med Chem 2007;14:199-212. (Pubitemid 46043915)
7. Bianchi N, Zuccato C, Lampronti I, Borgatti M, Gambari R. Fetal hemoglobin inducers from the natural world; a novel approach for identification of drugs for the treatment of beta-thalassemia and sickle-cell anemia. Evid Based Complement Altern Med 2009;6:141-151
8. Testa U. Fetal hemoglobin chemical inducers for treatment of hemoglobinopathies. Ann Hematol 2009;88:505-528
9. Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C et al. A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia. Acta Haematol 2008:119: 28-37. (Pubitemid 351363855)
10. Zhao H, Pestina TI, Nasimuzzaman M, Mehta P, Hargrove PW, Persons DA. Amelioration of murine beta-thalassemia through drug selection of hematopoietic stem cells transduced with a lentiviral vector encoding both gamma-globin and the MGMT drug-resistance gene. Blood 2009;113:5747-5756
11. Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet 2009;18(R2):R216-23.
12. Bianchi N, Borgatti M, Fibach E, Prus E, Zuccato C, Breveglieri G et al. Bis-epoxyethyl derivatives of distamycin A modified on the amidino moiety: induction of production of fetal hemoglobin in human erythroid precursor cells. Int J Mol Med 2009;23:105-111
13. Guerrini A, Lampronti I, Bianchi N, Zuccato C, Breveglieri G, Salvatori F et al. Bergamot (Citrus bergamia Risso) Fruit Extracts as gamma-Globin Gene Expression Inducers: Phytochemical and Functional Perspectives. J Agric Food Chem 2009 [Epub ahead of print].
14. Lampronti I, Bianchi N, Zuccato C, Dall'Acqua F, Vedaldi D, Viola G et al. Increase in gamma-globin mRNA content in human erythroid cells treated with angelicin analogs. Int J Hematol 2009 [Epub ahead of print].
15. Moutouh-de Parseval LA, Verhelle D, Glezer E, Jensen-Pergakes K, Ferguson GD, Corral LG et al. Pomalidomide and lenalidomide regulate erythropoiesis and fetal hemoglobin production in human CD34+ cells. J Clin Invest 2008;118:248-258
16. Corral LG, Haslett PA, Muller GW, Chen R, Wong LM, Ocampo CJ et al. Differential cytokine modulation and T cell activation by two distinct classes of thalidomide analogues that are potent inhibitors of TNF-alpha. J. Immunol 1999;163:380-386 (Pubitemid 29295864)
17. List A, Kurtin S, Roe DJ, Buresh A, Mahadevan D, Fuchs D et al. Efficacy of lenalidomide in myelodysplastic syndromes. N Engl J Med 2005;352:549-557
18. Schey SA, Fields P, Bartlett JB, Clarke IA, Ashan G, Knight RD et al. Phase I study of an immunomodulatory thalidomide analog, CC-4047, in relapsed or refractory multiple myeloma. J Clin Oncol 2004;22:3269-3276 (Pubitemid 41103682)
19. Gabbianelli M, Morsilli O, Massa A, Pasquini L, Cianciulli P, Testa U et al. Effective erythropoiesis and HbF reactivation induced by kit ligand in beta-thalassemia. Blood 2008;111:421-429
20. Möhle R, Kanz L. Hematopoietic growth factors for hematopoietic stem cell mobilization and expansion. Semin Hematol 2007;44:193-202. (Pubitemid 47031228)
21. Xu XS, Hong X, Wang G. Induction of endogenous gamma-globin gene expression with decoy oligonucleotide targeting Oct-1 transcription factor consensus sequence. J Hematol Oncol 2009;2:15.
22. Gräslund T, Li X, Magnenat L, Popkov M, Barbas CF 3rd. Exploring strategies for the design of artificial transcription factors: targeting sites proximal to known regulatory regions for the induction of gamma-globin expression and the treatment of sickle cell disease. J Biol Chem 2005;280:3707-3714 (Pubitemid 40223838)
23. Dreier B, Beerli RR, Segal DJ, Flippin JD, Barbas CF 3rd. Development of zinc finger domains for recognition of the 5'-ANN-3' family of DNA sequences and their use in the construction of artificial transcription factors. J Biol Chem 2001;276:29466-29478 (Pubitemid 37452042)
24. Dreier B, Segal DJ, Barbas CF 3rd. Insights into the molecular recognition of the 5'-GNN-3' family of DNA sequences by zinc finger domains. J Mol Biol 2000;303:489-502.
25. Seipel K, Georgiev O, Schaffner W. Different activation domains stimulate transcription from remote ('enhancer') and proximal ('promoter') positions. EMBO J 1992;11:4961-4968 (Pubitemid 23023440)
26. Fibach E, Bianchi N, Borgatti M, Zuccato C, Finotti A, Lampronti I et al. Effects of rapamycin on accumulation of alpha-, beta- and gamma-globin mRNAs in erythroid precursor cells from beta-thalassaemia patients. Eur J Haematol 2006;77:437-441 (Pubitemid 44483948)
27. Fathallah H, Sutton M, Atweh GF. Pharmacological induction of fetal hemoglobin: Why haven't we been more successful in thalassemia? Ann N Y Acad Sci 2005;1054:228-237
28. Perrine SP. Fetal globin stimulant therapies in the beta- hemoglobinopathies: principles and current potential. Pediatr Ann 2008;37:339-346
29. Atweh GF, Loukopoulos D. Pharmacological induction of fetal hemoglobin in sickle cell disease and beta-thalassemia. Semin Hematol 2001;38:367-373 (Pubitemid 32995606)
30. Karimi M, Mohammadi F, Behmanesh F, Samani SM, Borzouee M, Amoozgar H et al. Effect of combination therapy of hydroxyurea with L- carnitine and magnesium chloride on hematologic parameters and cardiac function of patients with beta-thalassemia intermedia. Eur J Haematol [Epub ahead of print].
31. Zamani F, Shakeri R, Eslami SM, Razavi SM, Basi A. Hydroxyurea therapy in 49 patients with major beta-thalassemia. Arch Iran Med 2009;12:295-297
32. Masera N, Tavecchia L, Capra M, Cazzaniga G, Vimercati C, Pozzi L et al. Optimal response to thalidomide in a thalassaemia major patient resistant to conventional therapy. Blood Transfusion [In press].
33. Aguilar-Lopez LB, Delgado-Lamas JL, Rubio-Jurado B, Perea FJ, Ibarra B. Thalidomide therapy in a patient with thalassemia major. Blood Cells Mol Dis 2008;41:136-137
34. Moreira LS, de Andrade TG, Albuquerque DM, Cunha AF, Fattori A, Saad ST, Costa FF. Identification of differentially expressed genes induced by hydroxyurea in reticulocytes from sickle cell anaemia patients. Clin Exp Pharmacol Physiol 2008;35:651-655 (Pubitemid 351490101)
35. Voon HP, Wardan H, Vadolas J. siRNA-mediated reduction of alpha-globin results in phenotypic improvements in beta-thalassemic cells. Haematologica 2008;93:1238-1242
36. Sadelain M, Boulad F, Lisowki L, Moi P, Riviere I. Stem cell engineering for the treatment of severe hemoglobinopathies. Curr Mol Med 2008;8:690-697
37. Sadelain M, Lisowski L, Samakoglu S, Rivella S, May C, Riviere I. Progress toward the genetic treatment of the beta-thalassemias. Ann N Y Acad Sci 2005;1054:78-91. (Pubitemid 43031013)
38. Miccio A, Cesari R, Lotti F, Rossi C, Sanvito F, Ponzoni M et al. In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of beta-thalassemia. Proc Natl Acad Sci U S A 2008;105:10547-10552
39. Colosimo A, Guida V, Antonucci I, Bonfini T, Stuppia L, Dallapiccola B. Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells. Haematologica 2007;92:129-130 (Pubitemid 46232669)
40. Sullenger BA. Targeted genetic repair: an emerging approach to genetic therapy. J Clin Invest 2003;112:310-311 (Pubitemid 38063755)
41. Goncz KK, Colosimo A, Dallapiccola B, Gagne L, Hong K, Novelli G et al. Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR. Gene Ther 2001;8:961-965 (Pubitemid 32600153)
42. Kapsa R, Quigley A, Lynch GS, Steeper K, Kornberg AJ, Gregorevic P et al. In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Hum Gene Ther 2001;12: 629-642
43. Gruenert DC, Bruscia E, Novelli G, Colosimo A, Dallapiccola B, Sangiuolo F et al. Sequence-specific modification of genomic DNA by small DNA fragments. J Clin Invest 2003;112:637-641 (Pubitemid 38057700)
44. Goncz KK, Prokopishyn NL, Abdolmohammadi A, Bedayat B, Maurisse R, Davis BR et al. Small fragment homologous replacement-mediated modification of genomic beta-globin sequences in human hematopoietic stem/progenitor cells. Oligonucleotides 2006;16:213-224 (Pubitemid 44763316)
45. Svasti S, Suwanmanee T, Fucharoen S, Moulton HM, Nelson MH, Maeda N et al. RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice. Proc Nad Acad Sci U S A 2009;106:1205-1210
46. Khajavi M, Inoue K, Lupski JR. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006;14:1074-1081 (Pubitemid 44463965)
47. Lim SK, Sigmund CD, Gross KW, Maquat LE. Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. Mol Cell Biol 1992;12:1149-1161
48. Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91. (Pubitemid 46685839)
49. Salvatori F, Cantale V, Breveglieri G, Zuccato C et al. Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop codon mutations. Biotechnol Appl Biochem 2009;54: 41-52.
50. Salvatori S, Breveglieri G, Zuccato C, Finotti A, Bianchi N, Borgatti M et al. Production of b-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous β039 thalassemia patients. American J Haematology 2009;84:720-728
51. Ye L, Chang JC, Lin C, Sun X, Yu J, Kan YW. 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 2009;106:9826-9830
52. Abuljadayel IS, Quereshi H, Ahsan T, Rizvi S, Ahmed T, Khan SM et al. Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia. Scientific WorldJournal 2006;6: 1278-1297 (Pubitemid 44715640)
53. Hochedlinger K, Plath K. Epigenetic reprogramming and induced pluripotency. Development 2009;136:509-523
54. Welstead GG, Brambrink T, Jaenisch R. Generating iPS cells from MEFS through forced expression of Sox-2, OcM, c-Myc, and Klf4. J Vis Exp 2008;(14). pii:734. doi: 10.3791/734.
55. Yamanaka S. Strategies and new developments in the generation of patient-specific pluripotent stem cells. Cell Stem Cell 2007;1: 39-49. (Pubitemid 46865811)