Perspectives for gene therapy of Wilson disease

Current Gene Therapy

Volumn 7, Issue 3, 2007, Pages 217-220

  Merle, Uta ^a   Stremmel, Wolfgang ^a   Encke, Jens ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

AAV vectors; ATP7B cDNA; ATP7B gene; Gene therapy; Long Evans Cinnamon rat

Indexed keywords

ADENOVIRUS VECTOR; CERULOPLASMIN; COPPER; LENTIVIRUS VECTOR; PENICILLAMINE; RETROVIRUS VECTOR; TRIENTINE; WILSON DISEASE PROTEIN; ZINC DERIVATIVE;

AUTOSOMAL RECESSIVE DISORDER; CERULOPLASMIN BLOOD LEVEL; COMBINED IMMUNODEFICIENCY; FATALITY; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GENE TRANSFER; HUMAN; LIVER FAILURE; LIVER TRANSPLANTATION; NEUROLOGIC DISEASE; NONHUMAN; NONVIRAL GENE THERAPY; PROGNOSIS; REVIEW; SAFETY; SYMPTOM; T CELL LEUKEMIA; VIRAL GENE DELIVERY SYSTEM; WILSON DISEASE;

ANIMALS; DISEASE MODELS, ANIMAL; GENE EXPRESSION; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; HEPATOLENTICULAR DEGENERATION; HUMANS; RATS;

CINNAMOMUM VERUM; RATTUS;

EID: 34250163579     PISSN: 15665232     EISSN: None     Source Type: Journal    
DOI: 10.2174/156652307780859053     Document Type: Review

References (31)

1. Bergelson, J.M., Krithivas, A., Celi, L., Droguett, G., Horwitz, M.S., Wickham, T., Crowell, R.L. and Finberg, R.W. (1998) The murine CAR homolog is a receptor for coxsackie B viruses and adenoviruses. J. Virol., 72: 415-419.
2. Bull, P.C. Thomas, G.R., Rommens, J.M., Forbes, J.R. and Cox, D.W. (1993) The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat. Genet., 5: 327-337.
3. Cavazzana-Calvo, M., Hacein-Bey, S., de Saint Basile, G., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J.L., Bousso, P., Deist F.L. and Fischer, A. (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science, 288: 669-672.
4. Dave, U.P., Jenkins, N.A. and Copeland, N.G. (2004) Gene therapy insertional mutagenesis insights. Science, 303: 333.
5. Di Domenico, C., Villani, G.R., Di Napoli, D., Reyero, E.G., Lombardo, A., Naldini, L. and Di Natale, P. (2005) Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum. Gene Ther., 16: 81-90.
6. Domenico, C.D., Napoli, D.D., Reyero, E.G., Lombardo, A., Naldini, L. and Natale, P.D. (2006) Limited Transgene Immune Response and Long-Term Expression of Human alpha-L-Iduronidase in Young Adult Mice with Mucopolysaccharidosis Type I by Liver-Directed Gene Therapy. Hum. Gene Ther., 17: 1112-1121.
7. Follenzi A., Sabatino, G., Lombardo, A., Boccaccio, C. and Naldini, L. (2002) Efficient gene delivery and targeted expression to hepatocytes in vivo by improved lentiviral vectors. Hum. Gene Ther., 13: 243-260.
8. Frydman, M. (1990) Genetic aspects of Wilson's disease. J. Gastroenterol. Hepatol., 5: 483-490.
9. Geurts, A.M., Yang, Y., Clark, K.J., Liu, G., Cui, Z., Dupuy, A.J., Bell, J.B., Largaespada, D.A. and Hackett, P.B. (2003) Gene transfer into genomes of human cells by the sleeping beauty transposon system. Mol. Ther., 8: 108-117.
10. Hacein-Bey-Abina, S., Le Deist, F., Carlier, F., Bouneaud, C., Hue, C., De Villartay, J.P., Thrasher, A.J., Wulffraat, N., Sorensen, R., Dupuis-Girod, S., Fischer, A., Davies, E.G., Kuis, W., Leiva, L. and Cavazzana-Calvo, M. (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med., 346: 1185-1193.
11. Hacein-Bey-Abina, S., von Kalle, C., Schmidt M., Le Deist, F., Wulffraat, N., McIntyre, E., Radford, I., Villeval, J.L., Fraser, C.C., Cavazzana-Calvo, M. and Fischer, A. (2003a) A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med., 348: 255-256.
12. Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M.P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C.S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J.I., de Saint Basile, G., Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L.E., Wissler, M., Prinz, C., Rabbitts, T.H., Le Deist, F., Fischer, A. and Cavazzana-Calvo, M. (2003b) LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science, 302: 415-419.
13. Ha-Hao, D., Merle, U., Hofmann, C., Wesch, H., Doll, J., Auburger, G., Turns, S., Strauss, M. and Stremmel, W. (2002) Chances and shortcomins of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats. Z. Gastroenterol., 40: 209-216.
14. Lai, Y., Yue, Y., Liu, M., Ghosh, A., Engelhardt, J.F., Chamberlain, J.S. and Duan, D. (2005) Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors. Nat. Biotechnol., 23: 1435-1439.
15. Laufs, S., Nagy, K.Z., Giordano, F.A., Hotz-Wagenblatt, A., Zeller, W.J. and Fruehauf, S. (2004) Insertion of retroviral vectors in NOD/SCID repopulating human peripheral blood progenitor cells occurs preferentially in the vicinity of transcription start regions and in introns. Mol. Ther., 10: 874-881.
16. Lehrman, S. (1999) Virus treatment questioned after gene therapy death. Nature, 401: 517-518.
17. Maxfield, L.F., Fraize, C.D. and Coffin, J.M. (2005) Relationship between retroviral DNA-integration-site selection and host cell transcription. Proc. Natl. Acad. Sci. USA, 102: 1436-1441.
18. Meng, Y., Miyoshi, I., Hirabayashi, M., Su, M., Mototani, Y., Okamura, T., Terada, K., Ueda, M., Enomoto, K., Sugiyama, T. and Kasai, N. (2004) Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene. Biochim. Biophys. Acta, 1690: 208-219.
19. Merle, U., Encke, J., Tuma, S., Volkmann M., Naldini, L. and Stremmel, W. (2006a) Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: an animal model for Wilson disease. Scand. J. Gastroenterol., 41: 974-982.
20. Merle, U., Schaefer, M., Ferenci, P. and Stremmel, W. (2006b) Clinical presentation, diagnosis and long-term outcome of Wilson disease - a cohort study. Gut, 56: 115-120.
21. Nakai, H., Yant, S.R., Storm, T.A., Fuess, S., Meuse, L. and Kay, M.A. (2001) Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J. Virol., 75: 6969-6976.
22. Naldini, L., Blomer, U., Gallay, P., Ory, D., Mulligan, R., Gage, F.H., Verma, I.M. and Trono, D. (1996) In vivo gene delivery and stable transduction of nondividing cells by a lentiviral vector. Science, 272: 263-267.
23. Roberts, E.A. and Schilsky, M.L. (2003) A practice guideline on Wilson disease. Hepatology., 37: 1475-1492.
24. Schilsky, ML, Stockert, RJ and Sternlieb, I (1994). Pleiotropic effect of LEC mutation: a rodent model of Wilson's disease. Am. J. Physiol., 266: G907-913.
25. Schroder, A.R., Shinn, P., Chen, H., Berry, C., Ecker, J.R. and Bushman, F. (2002) HIV-1 integration in the human genome favors active genes and local hotspots. Cell, 110: 521-529.
26. Tanzi, R.E., Petrukhin, K., Chernov, I., Pellequer, J.L., Wasco, W., Ross, B., Romano, D.M., Parano, E., Pavone, L., Brzustowicz, I.M., Devoto, M., Peppercorn, J., Bush, A.I., Sternlieb, I., Pirastu, M., Gusella, J.F., Evgrafov, O., Penchaszadeh, G.K., Honig, B., Edelman, I.S., Soares, M.B., Scheinberg, I.H. and Gilliam, T.C. (1993) The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet., 5: 344-350.
27. Terada, K., Aiba, N., Yang, X.L., Iida, M., Nakai, M., Miura, N. and Sugiyama, T. (1999) Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B. FEBS Lett., 448: 53-56.
28. Terada, K., Nakako, T., Yang, X.L., Iida, M., Aiba, N., Minamiya, Y., Nakai, M., Sakaki, T., Miura, N. and Sugiyama, T. (1998) Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus hearing WND cDNA. J. Biol. Chem., 273: 1815-1820.
29. Toietta, G., Mane, V.P., Norona, W.S., Finegold, M.J., Ng, P., McDonagh, A.F., Beaudet, A.L. and Lee, B. (2005) Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector. Proc. Natl. Acad. Sci. USA, 102: 3930-3935.
30. Wu, J., Forbes, J.R., Chen, H.S. and Cox, D.W. (1994) The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat. Genet., 7: 541-545.
31. Wu, X., Li, Y., Crise, B. and Burgess, S.M. (2003) Transcription start regions in the human genome are favored targets for MLV integration. Science, 300: 1749-1751.