α-galactosidase a expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking

Human Gene Therapy

Volumn 22, Issue 3, 2011, Pages 293-301

  Passineau, Michael J ^a,e   Fahrenholz, Timothy ^b   MacHen, Laurie ^a   Zourelias, Lee ^a   Nega, Katherine ^a   Paul, Rachel ^a   MacDougall, Mary J ^c   Mamaeva, Olga ^c   Steet, Richard ^d   Barnes, Jarrod ^d   Kingston, H M ^b   Benza, Raymond L ^a  

^a ALLEGHENY HEALTH NETWORK   (United States)

^b DUQUESNE UNIVERSITY   (United States)

^c Univ of Alabama School of Dentistry   (United States)

^d UNIVERSITY OF GEORGIA   (United States)

^e ALLEGHENY GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; ALPHA GALACTOSIDASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOSYNTHESIS; BRAIN; CANNULATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME REPLACEMENT; FABRY DISEASE; FLUORESCENCE; GENE DELIVERY SYSTEM; GENE EXPRESSION; GENE THERAPY; ISOTOPE DILUTION ASSAY; KIDNEY; LIVER; MASS SPECTROMETRY; MOUSE; NONHUMAN; SALIVARY GLAND; SUBMANDIBULAR GLAND; TRANSGENE; VIRUS PARTICLE; WESTERN BLOTTING;

ADENOVIRIDAE; ALPHA-GALACTOSIDASE; ANIMALS; DISEASE MODELS, ANIMAL; FABRY DISEASE; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENE THERAPY; GENETIC VECTORS; HEK293 CELLS; HUMANS; LIVER; MALE; MICE; MICE, KNOCKOUT; PROTEIN TRANSPORT; SALIVA; SALIVARY GLANDS; SECRETORY PATHWAY; SEX FACTORS; TRANSGENES;

ADENO-ASSOCIATED VIRUS; ADENOVIRIDAE; ANIMALIA; MUS;

EID: 79952651639     PISSN: 10430342     EISSN: None     Source Type: Journal    
DOI: 10.1089/hum.2010.069     Document Type: Article

References (36)

1. Adriaansen, J., Perez, P., Goldsmith, C.M., et al. (2008). Differential sorting of human parathyroid hormone after transduction of mouse and rat salivary glands. Hum. Gene Ther. 19, 1021-1028.
2. Alemany, R., Suzuki, K., and Curiel, D.T. (2000). Blood clearance rates of adenovirus type 5 in mice. J. Gen. Virol. 81, 2605-2609.
3. Barngrover, D. (2002). Fabrazyme-recombinant protein treatment for Fabry's disease. J. Biotechnol. 95, 280-282.
4. Beck, M. (2007). New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum. Genet. 121, 1-22. (Pubitemid 46421136)
5. Beutler, E., and Kuhl, W. (1972). Purification and properties of human alpha-galactosidases. J. Biol. Chem. 247, 7195-7200.
6. Castle, D., and Castle, A. (1998). Intracellular transport and secretion of salivary proteins. Crit. Rev. Oral Biol. Med. 9, 4-22. (Pubitemid 28477639)
7. Desnick, R.J., Allen, K.Y., Desnick, S.J., et al. (1973). Fabry's disease: enzymatic diagnosis of hemizygotes and heterozy-gotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J. Lab. Clin. Med. 81, 157-171.
8. Gelb, M.H., Turecek, F., Scott, C.R., and Chamoles, N.A. (2006). Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of ly-sosomal storage disorders. J. Inherit. Metab. Dis. 29, 397-404. (Pubitemid 43880641)
9. Gieselmann, V. (1995). Lysosomal storage diseases. Biochim. Biophys. Acta 1270, 103-136.
10. Grubb, J.H., Vogler, C., Levy, B., et al. (2008). Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. U.S.A. 105, 2616-2621. (Pubitemid 351520562)
11. Hodges, B.L., and Cheng, S.H. (2006). Cell and gene-based therapies for the lysosomal storage diseases. Curr. Gene Ther. 6, 227-241.
12. Ioannou, Y.A., Zeidner, K.M., Gordon, R.E., and Desnick, R.J. (2001). Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am. J. Hum. Genet. 68, 14-25. (Pubitemid 32048358)
13. Isenman, L., Liebow, C., and Rothman, S. (1999). The endocrine secretion of mammalian digestive enzymes by exocrine glands. Am. J. Physiol. 276, E223-E232. (Pubitemid 29100576)
14. Jacobs, F., Feng, Y., Van Craeyveld, E., et al. (2009). Species differences in hepatocyte-directed gene transfer: implications for clinical translation. Curr. Gene Ther. 9, 83-90.
15. Jung, S.C., Han, I.P., Limaye, A., et al. (2001). Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc. Natl. Acad. Sci. U.S.A. 98, 2676-2681. (Pubitemid 32209541)
16. Kamimura, K., and Liu, D. (2008). Physical approaches for nucleic acid delivery to liver. AAPS J. 10, 589-595.
17. Katano, H., Kok, M.R., Cotrim, A.P., et al. (2006). Enhanced transduction of mouse salivary glands with AAV5-based vectors. Gene Ther. 13, 594-601.
18. Kint, J.A. (1970). Fabry's disease: alpha-galactosidase deficiency. Science 167, 1268-1269.
19. Li, Y., Scott, C.R., Chamoles, N.A., et al. (2004). Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. 50, 1785-1796. (Pubitemid 39298007)
20. LoDuca, P.A., Hoffman, B.E., and Herzog, R.W. (2009). Hepatic gene transfer as a means of tolerance induction to transgene products. Curr. Gene Ther. 9, 104-114.
21. Maria, O.M., Kim, J.W., Gerstenhaber, J.A., et al. (2008). Distribution of tight junction proteins in adult human salivary glands. J. Histochem. Cytochem. 56, 1093-1098.
22. Medin, J.A., Tudor, M., Simovitch, R., et al. (1996). Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc. Natl. Acad. Sci. U.S.A. 93, 7917-7922.
23. Muenzer, J., and Fisher, A. (2004). Advances in the treatment of mucopolysaccharidosis type I. N. Engl. J. Med. 350, 1932-1934. (Pubitemid 38580194)
24. Neufeld, E.F. (1991). Lysosomal storage diseases. Annu. Rev. Biochem. 60, 257-280.
25. Ohshima, T., Murray, G.J., Swaim, W.D., et al. (1997). alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc. Natl. Acad. Sci. U.S.A. 94, 2540-2544. (Pubitemid 27136911)
26. Samuni, Y., Cawley, N.X., Zheng, C., et al. (2008a). Sorting behavior of a transgenic erythropoietin-growth hormone fusion protein in murine salivary glands. Hum. Gene Ther. 19, 279-286. (Pubitemid 351442725)
27. Samuni, Y., Zheng, C., Cawley, N.X., et al. (2008b). Sorting of growth hormone-erythropoietin fusion proteins in rat salivary glands. Biochem. Biophys. Res. Commun. 373, 136-139.
28. Seiler, M.P., Cerullo, V., and Lee, B. (2007). Immune response to helper dependent adenoviral mediated liver gene therapy: challenges and prospects. Curr. Gene Ther. 7, 297-305. (Pubitemid 47595772)
29. Takenaka, T., Qin, G., Brady, R.O., and Medin, J.A. (1999). Circulating alpha-galactosidase A derived from transduced bone marrow cells: relevance for corrective gene transfer for Fabry disease. Hum. Gene Ther. 10, 1931-1939. (Pubitemid 29387907)
30. Takenaka, T., Murray, G.J., Qin, G., et al. (2000). Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc. Natl. Acad. Sci. U.S.A. 97, 7515-7520. (Pubitemid 30431495)
31. Vedder, A.C., Breunig, F., Donker-Koopman, W.E., et al. (2008). Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol. Genet. Metab. 94, 319-325.
32. Voutetakis, A., Kok, M.R., Zheng, C., et al. (2004). Reengineered salivary glands are stable endogenous bioreactors for systemic gene therapeutics. Proc. Natl. Acad. Sci. U.S.A. 101, 3053-3058. (Pubitemid 38327733)
33. Voutetakis, A., Bossis, I., Kok, M.R., et al. (2005). Salivary glands as a potential gene transfer target for gene therapeutics of some monogenetic endocrine disorders. J. Endocrinol. 185, 363-372. (Pubitemid 40883381)
34. Ziegler, R.J., Yew, N.S., Li, C., et al. (1999). Correction of enzymatic and lysosomal storage defects in Fabry mice by adeno-virus-mediated gene transfer. Hum. Gene Ther. 10, 1667-1682. (Pubitemid 29328211)
35. Ziegler, R.J., Lonning, S.M., Armentano, D., et al. (2004). AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. Mol. Ther. 9, 231-240. (Pubitemid 38256549)
36. Ziegler, R.J., Cherry, M., Barbon, C.M., et al. (2007). Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. Mol. Ther. 15, 492-500.