Hemophilia gene therapy: Novel rAAV vectors and RNA repair strategy

Current Opinion in Molecular Therapeutics

Volumn 4, Issue 5, 2002, Pages 499-504

  Chao, Hengjun ^a   Walsh, Christopher E ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Adeno associated virus; Factor IX; Factor VIII; Gene therapy; Hemophila; RNA trans splicing; Serotype

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9 CONCENTRATE; CAPSID PROTEIN; COMPLEMENTARY DNA; CYCLOPHOSPHAMIDE; MESSENGER RNA; NEOMYCIN; NUCLEOTIDE; PARVOVIRUS VECTOR; POLYPEPTIDE; RNA; THROMBIN; VIRUS PROTEIN; VIRUS VECTOR; VON WILLEBRAND FACTOR;

ADENO ASSOCIATED VIRUS; BLEEDING DISORDER; CLINICAL TRIAL; DOSE RESPONSE; DRUG EFFICACY; DRUG HALF LIFE; DRUG PACKAGING; EXON; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GENE TECHNOLOGY; GENE THERAPY; GENE TRANSFER; GENETIC CODE; GENETIC TRANSCRIPTION; HEMARTHROSIS; HEMOPHILIA A; HEMOPHILIA B; HUMAN; NONHUMAN; REVIEW; RNA SPLICING; SEROTYPING; SIDE EFFECT; SOFT TISSUE DISEASE; SPLICEOSOME; TRANSGENE; TREATMENT PLANNING; VIRAL GENE DELIVERY SYSTEM; VIRUS RECOMBINANT;

DEPENDOVIRUS; GENE THERAPY; GENETIC VECTORS; HEMOPHILIA A; HUMANS; RNA; RNA SPLICING;

ADENO-ASSOCIATED VIRUS; PARVOVIRUS;

EID: 0036820122     PISSN: 14648431     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (37)

1. Samulski R, Sally M, Muzyczka N: Adeno-associated viral vectors. In: The Development of Human Gene Therapy. Friedmann T (Ed), Cold Spring Harbor Laboratory Press, NY, USA (1999):131-172.
2. Xie Q, Bu W, Bhatia S, Hare J, Somasundaram T, Azzi A, Chapman MS: The atomic structure of adeno-associated virus (AAV-2), a vector for human gene therapy. Proc Natl Acad Sci USA (2002) 99(16):10405-10410.
3. Chiorini JA, Yang L, Liu Y, Safer B, Kotin RM: Cloning of adeno-associated virus type 4 (AAV4) and generation of recombinant AAV4 particles. J Virol (1997) 71(9):6823-6833.
4. Xiao W, Chirmule N, Berta SC, McCullough B, Gao G, Wilson JM: Gene therapy vectors based on adeno-associated virus type 1. J Virol (1999) 73(5):3994-4003.
5. Halbert CL, Allen JM, Miller AD: Adeno-associated virus type 6 (AAV6) vectors mediate efficient transduction of airway epithelial cells in mouse lungs compared to that of AAV2 vectors. J Virol (2001) 75(14):6615-6624.
6. Xiao W, Berta SC, Lu MM, Moscioni AD, Tazelaar J, Wilson JM: Adeno-associated virus as a vector for liver-directed gene therapy. J Virol (1998) 72(12):10222-10226.
7. Chiorini JA, Kim F, Yang L, Kotin RM: Cloning and characterization of adeno-associated virus type 5. J Virol (1999) 73:1309-1319.
8. Gao GP, Alvira MR, Wang L, Calcedo R, Johnston J, Wilson JM: Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci USA (2002) 99(18):11854-11859.
9. Chao H, Liu Y, Rabinowitz J, Li C, Samulski RJ, Walsh CE: Several log increase in therapeutic transgene delivery by distinct adeno-associated viral serotype vectors. Mol Ther (2000) 2(6):619-623.
10. Handa A, Muramatsu S, Qiu J, Mizukami H, Brown KE: Adeno-associated virus (AAV)-3-based vectors transduce haematopoietic cells not susceptible to transduction with AAV-2-based vectors. J Gen Virol (2000) 81:2077-2084.
11. Davidson BL, Stein CS, Heth JA, Martins I, Kotin RM, Derksen TA, Zabner J, Ghodsi A, Chiorini JA: Recombinant adeno-associated virus type 2, 4, and 5 vectors: Transduction of variant cell types and regions in the mammalian central nervous system. Proc Natl Acad Sci USA (2000) 97(7):3428-3432.
12. Rabinowitz JE, Rolling F, Li C, Conrath H, Xiao W, Xiao X, Samulski RJ: Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J Virol (2002) 76(2):791-801.
13. Duan D, Yue Y, Yan Z, Yang J, Engelhardt JF: Endosomal processing limits gene transfer to polarized airway epithelia by adeno-associated virus. J Clin Invest (2000) 105(11):1573-1587.
14. Girod A, Wobus CE, Zadori Z, Ried M, Leike K, Tijssen P, Kleinschmidt JA, Hallek M: The VP1 capsid protein of adeno-associated virus type 2 is carrying a phospholipase A2 domain required for virus infectivity. J Gen Virol (2002) 83:973-978.
15. Snyder RO, Miao C, Meuse L, Tubb J, Donahue BA, Lin HF, Stafford DW, Patel S, Thompson AR, Nichols T, Read MS et al: Correction of hemophilia B in canine and murine models using recombinant adeno-associated viral vectors. Nat Med (1999) 5(1):64-70.
16. Wang L, Nichols TC, Read MS, Bellinger DA, Verma IM: Sustained expression of therapeutic level of Factor IX in hemophilia B dogs by AAV-mediated gene therapy in liver. Mol Ther (2000) 1(2):154-158.
17. Mount JD, Herzog RW, Tillson DM, Goodman SA, Robinson N, McCleland ML, Bellinger D, Nichols TC, Arruda VR, Lothrop CD, High KA: Sustained phenotypic correction of hemophilia B dogs with a Factor IX null mutation by liver-directed gene therapy. Blood (2002) 99(8):2670-2676.
18. Chao H, Mao L, Bruce AT, Walsh CE: Sustained expression of human Factor VIII in mice using a parvovirus-based vector. Blood (2000) 95(5):1594-1599.
19. Chao H, Samulski R, Bellinger D, Monahan P, Nichols T, Walsh C: Persistent expression of canine Factor IX in hemophilia B canines. Gene Ther (1999) 6(10):1695-1704.
20. Herzog RW, Yang EY, Couto LB, Hagstrom JN, Elwell D, Field PA, Burton M, Bellinger DA, Read MS, Brinkhous K, Podsakoff GM et al: Long-term correction of canine hemophilia B by gene transfer of blood coagulation Factor IX mediated by adeno-associated viral vector. Nat Med (1999) 5(1):56-63.
21. Chao H, Monahan PE, Liu Y, Samulski RJ, Walsh CE: Sustained and complete phenotype correction of hemophilia B mice following intramuscular injection of AAV1 serotype vectors. Mol Ther (2001) 4(3):217-22.
22. Hildinger M, Auricchio A, Gao G, Wang L, Chirmule N, Wilson JM: Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer. J Virol (2001) 75(13):6199-6203.
23. Kay MA, Manno CS, Ragni MV, Larson PJ, Couto LB, McClelland A, Glader B, Chew AJ, Tai SJ, Herzog RW, Arruda V et al: Evidence for gene transfer and expression of Factor IX in haemophilia B patients treated with an AAV vector. Nat Genet (2000) 24(3):257-261.
24. Glader B, Dake M, Razavi M, Zehnder JL, Rustagi P, Hutchinson S, Manno CS, Kaye R, Herzog RW, Arruda V, Leonard D et al: A phase I safety study in patients with severe hemophilia B (Factor IX deficiency) using adeno-associated viral vector to delivery the gene for human factor IX into the liver. The National Hemophilia Foundation's 5th Workshop on Gene Therapies for Hemophilia, Philadelphia, PA, USA (2002).
25. Kaufman RJ, Antonarakis SE: Structure, Biology, and Genetics of Factor VIII. In: Hematology: Basic Principles and Practice. Hoffman R, Benz EJ, Shattil S, Furie B, Cohen H, Silberstein L, McGlave P (Eds), Churchill Livingstone, New York, NY, USA (2000):1850-1868.
26. Dong JY, Fan PD, Frizzell RA: Quantitative analysis of the packaging capacity of recombinant adeno-associated virus. Hum Gene Ther (1996) 7(17):2101-2112.
27. Burton M, Nakai H, Colosi P, Cunningham J, Mitchell R, Couto L: Coexpression of Factor VIII heavy and light chain adeno-associated viral vectors produces biologically active protein. Proc Natl Acad Sci USA (1999) 96(22):12725-12730.
28. Sun L, Li J, Xiao X: Overcoming adeno-associated virus vector size limitation through viral DNA heterodimerization. Nat Med (2000) 6(5):599-602.
29. Duan D, Yue Y, Yan Z, Engelhardt JF: A new dual-vector approach to enhance recombinant adeno-associated virus-mediated gene expression through intermolecular cis activation. Nat Med (2000) 6(5):595-598.
30. Nakai H, Storm TA, Kay MA: Increasing the size of rAAV-mediated expression cassettes in vivo by intermolecular joining of two complementary vectors. Nat Biotechnol (2000) 18(5):527-532.
31. Chao H, Sun L, Bruce A, Xiao X, Walsh CE: Expression of human Factor VIII by splicing between dimerized AAV vectors. Mol Ther (2002) 5(6):716-722.
32. Garcia-Blanco M, Puttarjaju M, Mansfield S, Mitchell L: Spliceosome mediated RNA trans-splicing in gene therapy and genomics. Gene Ther Regulation (2000) 1:141-163.
33. Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH: Targeted disruption of the mouse Factor VIII gene produces a model of haemophilia A. Nat Genet (1995) 10(1):119-121.
34. Duan D, Yan Z, Yue Y, Ding W, Engelhardt JF: Enhancement of muscle gene delivery with pseudotyped adeno-associated virus type 5 correlates with myoblast differentiation. J Virol (2001) 75(16):7662-7671.
35. Zabner J, Seiler M, Walters R, Kotin RM, Fulgeras W, Davidson BL, Chiorini JA: Adeno-associated virus type 5 (AAV5) but not AAV2 binds to the apical surfaces of airway epithelia and facilitates gene transfer. J Virol (2000) 74(8):3852-3858.
36. Puttaraju M, Jamison SF, Mansfield SG, Garcia-Blanco MA, Mitchell LG: Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol (1999) 17(3):246-252.
37. Liu X, Jiang Q, Mansfield SG, Puttaraju M, Zhang Y, Zhou W, Cohn JA, Garcia-Blanco MA, Mitchell LG, Engelhardt JF: Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing. Nat Biotechnol (2002) 20(1):47-52.