Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice

Human Molecular Genetics

Volumn 8, Issue 5, 1999, Pages 831-838

  Guidotti, J E ^a   Mignon, A ^a   Haase, G ^a   Caillaud, C ^a,b   McDonell, N ^a   Kahn, A ^a   Poenaru, L ^a,b  

^a INSTITUT COCHIN   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; PROTEIN SUBUNIT;

ADENOVIRUS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME RELEASE; EXPRESSION VECTOR; GENE THERAPY; GENETIC TRANSDUCTION; KNOCKOUT MOUSE; LIVER; MOUSE; NONHUMAN; PRIORITY JOURNAL; RETROVIRUS; TAY SACHS DISEASE;

EID: 0032931554     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.831     Document Type: Article

References (50)

1. Adachi, M., Schneck, L. and Volk, B.W. (1974) Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Lab. Invest., 30, 102-112.
2. Huang, J.Q., Trasler, J.M., Igdoura, S., Michaud, J., Hanal, N. and Gravel, R.A. (1997) Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases. Hum. Mol. Genet., 6, 1879-1885.
3. Sandhoff, K., Conzelmann, E., Neufeld, E.F., Kaback, M.M. and Suzuki, K. (1989) The GM2 gangliosidoses. In Scriver, C.V., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic Basis of Inherited Disease. McGraw-Hill, New York, pp. 1807-1839.
4. Mahuran, D.J. (1995) Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease. Clin. Biochem., 28, 101-106.
5. Gilbert, F., Kucherlapati, R., Creagan, R.P., Murnane, M.J., Darlington, G.J. and Ruddle, F.H. (1975) Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes. Proc. Natl Acad. Sci. USA, 72, 263-267.
6. Cao, Z., Natowicz, M.R., Kaback, M.M., Lim, S.J., Prence, E.M., Brown, D., Chabot, T. and Triggs, R.B. (1993) A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation. Am. J. Hum. Genet., 53, 1198-1205.
7. Triggs, R.B., Mules, E.H., Kaback, M.M., Lim, S.J., Dowling, C.E., Akerman, B.R., Natowicz, M.R., Grebner, E.E., Navon, R., Welch, J.P. et al. (1992) A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. Am. J. Hum. Genet., 51, 793-801.
8. von Figura, K. (1991) Molecular recognition and targeting of lysosomal proteins. Curr. Opin. Cell Biol., 3, 642-646.
9. Owada, M. and Neufeld, E.F. (1982) Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem. Biophys. Res. Commun., 105, 814-820.
10. Glickman, J.N. and Kornfeld, S. (1993) Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. J. Cell Biol., 123, 99-108.
11. Moullier, P., Marechal, V., Danos, O. and Heard, J.M. (1993) Continuous systemic secretion of a lysosomal enzyme by genetically modified mouse skin fibroblasts. Transplantation, 56, 427-432.
12. Akli, S., Guidotti, J.E., Vigne, E., Perricaudet, M., Sandhoff, K., Kahn, A. and Poenaru, L. (1996) Restoration of hexosaminidase A activity in human Tay-Sachs fibroblasts via adenoviral vector-mediated gene transfer. Gene Ther., 3, 769-774.
13. Guidotti, J.E., Akli, S., Castelnau-Ptakhine, L., Kahn, A. and Poenaru, L. (1998) Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells. Hum. Mol. Genet., 7, 831-838.
14. Yamanaka, S., Johnson, M.D., Grinberg, A., Westphal, H., Crawley, J.N., Taniike, M., Suzuki, K. and Proia, R.L. (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc. Natl Acad Sci. USA, 91, 9975-9979.
15. Phaneuf, D., Wakamatsu, N., Huang, J.Q., Borowski, A., Peterson, A.C., Fortunate, S.R., Ritter, G., Igdoura, S.A., Morales, C.R., Benoit, G., Akerman, B.R., Leclerc, D., Hanai, N., Marth, J.D., Trasler, J.M. and Gravel, R.A. (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum. Mol. Genet., 5, 1-14.
16. Cohen, T.M., Marchand, P., Akli, S., Sheardown, S.A., Puech, J.P., Kress, C., Gressens, P., Nassogne, M.C., Beccari, T., Muggleton, H.A. et al. (1995) Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mamm. Genome, 6, 844-849.
17. Smith, T.A., Mehaffey, M.G., Kayda, D.B., Saunders, J.M., Yei, S., Trapnell, B.C., McClelland, A. and Kaleko, M. (1993) Adenovirus mediated expression of therapeutic plasma levels of human factor IX in mice. Nature Genet., 5, 397-402.
18. Kashyap, V.S., Santamarina-Fojo, S., Brown, D.R., Parrott, C.L., Applebaum-Bowden, D., Meyn, S., Talley, G., Paigen, B., Maeda, N. and Brewer, H.B.Jr (1995) Apolipoprotein E deficiency in mice: gene replacement and prevention of atherosclerosis using adenovirus vectors. J. Clin. Invest., 96, 1612-1620.
19. Johnson, W.G., Desnick, R.J., Long, D.M., Sharp, H.L., Krivit, W., Brady, B. and Brady, R.O. (1973) Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. Birth Defects Orig. Article Ser., 9, 120-124.
20. Norflus, F., Tifft, C.J., McDonald, M.P., Goldstein, G., Crawley, J.N., Hoffmann, A., Sandhoff, K., Suzuki, K. and Proia, R.L. (1998) Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice. J. Clin. Invest., 101, 1881-1888.
21. Kytzia, H.J. and Sandhoff, K. (1985) Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A. J. Biol. Chem., 260, 7568-7572.
22. Yang, Y., Jooss, K.U., Su, Q., Ertl, H.C. and Wilson, J.M. (1996) Immune responses to viral antigens versus transgene product in the elimination of recombinant adenovirus-infected hepatocytes in vivo. Gene Ther., 3, 137-144.
23. Yang, Y., Nunes, F.A., Berencsi, K., Furth, E.E., Gonczol, E. and Wilson, J.M. (1994) Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc. Natl Acad. Sci. USA, 91, 4407-4411.
24. Michou, A.I., Santoro, L., Christ, M., Julliard, V., Pavirani, A. and Mehtali, M. (1997) Adenovirus-mediated gene transfer: influence of transgene, mouse strain and type of immune response on persistence of transgene expression. Gene Ther., 4, 473-482.
25. Tripathy, S.K., Black, H.B., Goldwasser, E. and Leiden, J.M. (1996) Immune responses to transgene-encoded proteins limit the stability of gene expression after injection of replication-defective adenovirus vectors. Nature Med., 2, 545-550.
26. Yamanaka, S., Johnson, O.N., Norflus, F., Boles, D.J. and Proia, R.L. (1994) Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb. Genomics, 21, 588-596.
27. Wakamatsu, N., Benoit, G., Lamhonwah, A.M., Zhang, Z.X., Trasler, J.M., Triggs-Ratne, B.L. and Gravel, R.A. (1994) Structural organization, sequence, and expression of the mouse HEXA gene encoding the alpha subunit of hexosaminidase A. Genomics, 24, 110-119.
28. Board, P.G., Losowsky, M.S. and Miloszewski, K.J. (1993) Factor XIII: inherited and acquired deficiency. Blood Rev., 7, 229-242.
29. Martinez, J. (1997) Congenital dysfibrinogenemia. Curr. Opin. Hematol., 4, 357-365.
30. Adachi, K., Sabnekar, P., Adachi, M., Reddy, L.R., Pang, J., Reddy, K.S. and Surrey, S. (1995) Polymerization of recombinant Hb S-Kempsey (deoxy-R state) and Hb S-Kansas (oxy-T state). J. Biol. Chem., 270, 26857-26862.
31. Bunn, H.F., Wohl, R.C., Bradley, T.B., Cooley, M. and Gibson, Q.H. (1974) Functional properties of hemoglobin Kempsey. J. Biol. Chem., 249, 7402-7409.
32. Bijvoet, A.G.A., Kroos, M.A., Pieper, F.R., Van der Vliet, M., De Boer, H.A., Van der Ploeg, A.T., Verbeet, M.P. and Reuser, A.J.J. (1998) Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice. Hum. Mol. Genet., 7, 1815-1824.
33. Sands, M.S., Vogler, C., Kyle, J.W., Grubb, J.H., Levy, B., Galvin, N., Sly, W.S. and Birkenmeier, E.H. (1994) Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J. Clin. Invest., 93, 2324-2331.
34. Shull, R.M., Kakkis, E.D., McEntee, M.F., Kania, S.A., Jonas, A.J. and Neufeld, E.F. (1994) Enzyme replacement in a canine model of Hurler syndrome. Proc. Natl Acad. Sci. USA, 91, 12937-12941.
35. Acsadi, G., Jani, A., Massie, B., Simoneau, M., Holland, P., Blaschuk, K. and Karpati, G (1994) A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity. Hum. Mol. Genet., 3, 379-584.
36. Herzog, R.W., Hagstrom, J.N., Kung, S.H., Tai, S.J., Wilson, J.M., Fisher, K.J. and High, K.A. (1997) Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus. Proc. Natl Acad. Sci. USA, 94, 5804-5809.
37. Haase, G., Kennel, P., Pettmann, B., Vigne, E., Akli, S., Revah, F., Schmalbruch, H. and Kahn, A. (1997) Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors. Nature Med., 3, 429-436.
38. Stratford-Perricaudet, L.D., Makeh, I., Perricaudet, M. and Briand, P. (1992) Widespread long-term gene transfer to mouse skeletal muscles and heart J. Clin. Invest., 90, 626-630.
39. Svensson, E.C., Black, H.B., Dugger, D.L., Tripathy, S.K., Goldwasser, E., Hao, Z., Chu, L. and Leiden, J.M. (1997) Long-term erythropoietin expression in rodents and non-human primates following intramuscular injection of a replication-defective adenoviral vector. Hum. Gene Ther., 8, 1797-1806.
40. Pauly, D.F., Johns, D.C., Matelis, L.A., Lawrence, J.H., Byrne, B.J. and Kessler, P.D. (1998) Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle. Gene Ther., 5, 473-480.
41. Snyder, E.Y., Taylor, R.M. and Wolfe, J.H. (1995) Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature, 374, 367-370.
42. Lacorazza, H.D., Flax, J.D., Snyder, E.Y. and Jendoubi, M. (1996) Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells. Nature Med., 2, 424-429.
43. Figueiredo, D.M., Hallewell, R.A., Chen, L.L., Fairweather, N.F., Dougan, G., Savitt, J.M., Parks, D.A. and Fishman, P.S. (1997) Delivery of recombinant tetanus-superoxide dismutase proteins to central nervous system neurons by retrograde axonal transport. Exp. Neurol., 145, 546-554.
44. Coen, L., Osta, R., Maury, M. and Brulet, P. (1997) Construction of hybrid proteins that migrate retrogradely and transynaptically into the central nervous system. Proc. Natl Acad. Sci. USA, 94, 9400-9405.
45. Broadwell, R.D., Baker-Cairns, B.J., Friden, P.M., Oliver, C. and Villegas, J.C. (1996) Transcytosis of protein through the mammalian cerebral epithelium and endothelium. III. Receptor-mediated transcytosis through the blood-brain barrier of blood-borne transferrin and antibody against the transferrin receptor. Exp. Neurol., 142, 47-65.
46. Sango, K., Yamanaka, S., Hoffmann, A., Okuda, Y., Grinberg, A., Westphal, H., McDonald, M.P., Crawley, J.N., Sandhoff, K., Suzuki, K. et al. (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genet., 11, 170-176.
47. Taniike, M., Yamanaka, S., Proia, R.L., Langaman, C., Bone-Turrentine, T. and Suzuki, K. (1995) Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. Acta Neuropathol. (Berlin), 89, 296-304.
48. Bayleran, J., Hechtman, P. and Saray, W. (1984) Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes. Clin. Chim. Acta, 143, 73-89.
49. Hasilik, A. and Neufeld, E.F. (1980) Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J. Biol. Chem., 255, 4937-4945.
50. Poenaru, L. and Dreyfus, J.C. (1973) Electrophoretic study of hexosaminidases. Hexosaminidase C. Clin. Chim. Acta, 43, 439-442.