Helios gene gun particle delivery for therapy of acid maltase deficiency

DNA and Cell Biology

Volumn 21, Issue 10, 2002, Pages 717-725

  Martiniuk, Frank ^a   Rom, William N ^a   Chen, Agnes ^a   Mack, Adra ^a   Donnabella, Vincent ^b   Slonim, Alfred ^b   Bulone, Linda ^a   Arvanitopoulos, Eleni ^c   Raben, Nina ^c   Plotz, Paul ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE; PLASMID DNA; VIRUS VECTOR;

ARTICLE; BIOLISTIC TRANSFORMATION; CONTROLLED STUDY; CYTOMEGALOVIRUS; DNA TRANSFECTION; DNA TRANSFER; DRUG EFFICACY; DRUG SAFETY; ENZYME ACTIVITY; EPIDERMIS; FIBROBLAST CULTURE; GENE DELIVERY SYSTEM; GENE GUN; GENE THERAPY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOID CELL LINE; MONOCYTE; MOUSE; MUSCLE WEAKNESS; NONHUMAN; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PROMOTER REGION;

CUCUMBER MOSAIC VIRUS; CYTOMEGALOVIRUS;

EID: 0036440428     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/104454902760599690     Document Type: Article

References (48)

1. Andree, C., Swain, W., Page, C., Macklin, M., Slama, J., Hatzis, D., and Eriksson, E. (1994). In vivo transfer and expression of a human epidermal growth factor gene accelerates wound repair. Proc. Natl. Acad. Sci. USA 91, 12188-12191.
2. Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A., and Struhl, K., Eds. (1992). Current Protocols in Molecular Biology (Wiley and Sons, New York).
3. Barry, M.A., Barry, M.E., and Johnston, S.A. (1994). Production of monoclonal antibodies by genetic immunizations. BioTechniques 16, 616-620.
4. Benn, S.I., Whitsitt, J., Broadley, K., Nanney, L., Perkins, D., He, L., Patel, M., Morgan, J., Swain, W., and Davidson, J. (1996). Particle-mediated gene transfer with transforming growth factor-B1 cDNAs enhances wound repair in rat skin. J. Clin. Invest. 98, 2894-2902.
5. Biewenga, J.E., Destree, O.H.J., and Schrama, L.H. (1997). Plasmid-mediated gene transfer in neurons using the biolistic technique. J. Neurosci. Methods 71, 67-75.
6. Brown, B.I., and Brown, D.H. (1965). The subcellular distribution of enzymes in type II glycogenosis and the occurrence of oligo alpha-1, 4-glucohydrolase in human tissues. Biochim. Biophys. Acta 110, 124-133.
7. Christou, P. (1994). Gene transfer to plants via particle bombardment. Plant Mol. Biol. Manual A2, 1-15.
8. Cournoyer, D., Scarpa, M., Mitani, K., Moore, K.A., Markowitz, D., Bank, A., Belmont, J.W., and Caskey, T. (1991). Gene transfer of adenosine deaminase into primitive human hematopietic progenitor cells. Hum. Gene Ther. 2, 203-213.
9. Debarsy, T., Jacquemin, P., Devos, P., and Hers, H.G. (1965). Rodent and human acid alpha glucosidase. Purification, properties and inhibition by antibodies. Investigation in type II glycogenosis. Eur. J. Biochem. 31, 156-165.
10. α-glycosidase gene. Am. J. Hum. Genet. 55, A325.
11. Eisenbraun, M.D., Fuller, D.H., and Haynes, J.R. (1993). Examination of parameters affecting the elicitation of humoral immune response by particle bombardment-mediated genetic immunization. DNA Cell Biol. 12, 791-797.
12. Fynan, E.F., Webster, R., Fuller, D., Haynes, J., Santoro, J., and Robinson, H. (1993). DNA vaccines: Protective immunizations by parental, mucosal, and gene-gun inoculations. Proc. Natl. Acad. Sci. USA 90, 11478-11482.
13. Gomez-Chiarri, M., Livingston, S., Muro-Cacho, C., Sanders, S., and Levine, R. (1996). Introduction of foreign genes into the tissue of live fish by direct injection and particle bombardment. Dis. Aquatic Organ. 27, 5-12.
14. Hers, H.G. (1983). Glucosidase in generalized glycogen storage disease. Biochem. J. 86, 11-16.
15. Hers, H., Xanhoof, F., and Debarsy, T. (1989). Glycogen storage diseases. In The Metabolic Basis of Inherited Disease. C.R. Scriver, A.L. Beaudet, W. Sly, and D. Valle, eds. (McGraw-Hill, New York) p. 425-452.
16. α-glucosidase locus of patients of differing phenotypes. Biochem. Biophys. Res. Commun. 244, 921-927.
17. Howell, J.MCC., Dorling, P.R., Cook, R.D., Robinson, W.F., Bradley, S., and Gawthorne, J.M. (1981). Infantile and adult onset form of generalized glycogenosis type II in cattle. J. Pathol. 134, 266-277.
18. Kornfeld, S. (1986). Trafficking of lysosomal enzymes. J. Clin. Invest. 77, 1-6.
19. La Badie, G.U. (1986). Biochemical and Immunologic Studies of Acid Alpha Glucosidase Deficiency, A Genetically Heterogeneous, Inherited Neuromuscular Disease. (Ph.D. Thesis, City University of New York, Mt. Sinai Hospital, New York).
20. Lai, W.C., Bennett, M., Johnston, S., Barry, M.A., and Pakes, S. (1995). Protection against Mycoplasma pulmonis infection by genetic variation. DNA Cell Biol. 14, 643-651.
21. Manktelow, B.W., and Hartley, W.J. (1975). Generalized glycogenosis in the sheep. J. Comp. Pathol. 85, 139-143.
22. Martiniuk, F. (2002). Alpha glucosidase deficiency syndromes. In Structural and Molecular Basis of Skeletal Muscle Disease (Allen Press Inc., Kansas) Chap. 8.
23. Martiniuk, F., and Hirschhorn, R. (1981). Characterization of neutral isozymes of human alpha-glucosidase: Difference in substrate specificity, molecular weight and electrophoretic mobility. Biochim. Biophys. Acta 658, 2248-2261.
24. Martiniuk, F., Bodkin, M., Tzall, S., and Hirschhorn, R. (1991). Isolation and partial characterization of the structural gene for human acid alpha glucosidase (GAA). DNA Cell Biol. 10, 283-292.
25. Martiniuk, F., Ellenbogen, A., Hirschhorn, K., and Hirschhorn, R. (1985). Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD) and alpha mannosidase B (MANB) by somatic cell hybridization. Hum. Genet. 69, 103-111.
26. Martiniuk, F., Mehler, M., Pellicer, A., Tzall, S., Labadie, G.U., Hobart, C., Ellenbogen, A., and Hirschhorn, R. (1986). Isolation of a cDNA for human acid alpha glucosidase and detection of genetic heterogeneity for mRNA in three alpha glucosidase deficient patients. Proc. Natl. Acad. Sci. USA 83, 9641-9644.
27. Martiniuk, F., Mehler, M., Tzall, S., Meredith, G., and Hirschhorn, R. (1990a). Sequence of the cDNA and 5′ flanking region for human acid alpha glucosidase, detection of an intron in the 5′ untranslated leader sequence, definition of 18 base pair polymorphism and differences with previous cDNA and amino acid sequences. DNA Cell Biol. 9, 85-94.
28. Martiniuk, F., Mehler, M., Tzall, S., Meredith, G., and Hirschhorn, R. (1990b). Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA. Am. J. Hum. Genet. 47, 73-78.
29. Mehler, M., and Di Mauro, S. (1977). Residual acid maltase activity in late onset acid maltase deficiency. Neurology 27, 178-184.
30. Nicolino, M., Puech, J., Kremer, A., Reuser, A., Mbebi, C., Sahuque, M., Kahn, A., and Poenaru, L. (1998). Adenovirus-mediated transfer of the acid glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation. Hum. Mol. Genet. 7, 1695-1702.
31. Nunoya, T., Tajima, M., and Mizutami, M. (1983). A new mutant of the Japanese quail (Coturnix coturnix japonica) characterized by generalized glycogenosis. Lab. Anim. 17, 138-142.
32. Raben, N., Nagaraju, K., Lee, E., Kessler, P., Byrne, B., Lee, L., Lamaurex, M., King, J., Sauer, B., and Plotz, P. (1998). Targeted disruption of the acid alpha glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J. Biol. Chem. 273, 19086-19092.
33. Reuser, A.J.J., Kroos, M.A., Hermans, M.M.P., Bijovet, A.G.A., Verbeet, M.P., Van Diggelen, M.P., Kleijer, W.J., and Van der Ploeg, A.T. (1995). Glycogenosis type II (acid maltase deficiency). Muscle Nerve 3, S61-S69.
34. Sabatini, D., and Adesnick, M. (1989). The biogenesis of membranes and organelles. In The Metabolic Basis of Inherited Diseases. C.R. Scriver, A.L. Beaudet, W. Sly, and D. Valle, eds. (McGrawHill, New York) p. 177-223.
35. Sambrook, J., Fritsch, E.F., and Maniatis, T. (1989). In Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Laboratory, Cold Spring Harbor, NY).
36. Sandstrom, B., Westrum, I., and Ockerman, P.A. (1965). Glycogenosis of the central nervous system of the cat. Acta Neuropathol. 14, 194-199.
37. Simon, R.H., Engelhardt, J.F., Yang, Y., Zepeda, M., Weber-Pendelton, S., Grossman, M., and Wilson, J.M. (1993). Adenovirus-mediated transfer of the CFTR gene to lung of nonhuman primates: Toxicity study. Hum. Gene Ther. 4, 771-780.
38. Sundaram, P., Xiao, W., and Brandsma, J.L. (1996). Particle-mediated delivery of recombinant expression vectors to rabbit skin induces high-titered polyclonal antisera (and circumvents purification of a protein immunogen). Nucleic Acids Res. 24, 1375-1377.
39. Sun, W.H., Burkholder, J., Sun, J., Culp, J., Turner, J., Lu, X., Pugh, T., Ershler, W., and Yang, N. (1995). In vivo cytokine gene transfer by gene gun reduces tumor growth in mice. Proc. Natl. Acad. Sci. USA 92, 2889-2893.
40. Torres, C.A.T., Iwasaki, A., Barber, B., and Robinson, H. (1997). Differential dependence on target site tissue for gene gun and intramuscular DNA immunizations. J. Immunol. 158, 4529-4532.
41. Tsujino, S., Kinoshita, N., Tashiro, T., Ikeda, K., Ichi-Hara, N., Kikuchi, H., Hagiwara, Y., Mizutani, M., Kikuchi, T., and Sakuragawa, N. (1998). Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. Hum. Gene Ther. 9, 1609-1616.
42. Tzall, S., and Martiniuk, F. (1991). Identification of the promoter region and transient expression for human acid alpha glucosidase in deficient cells. Biohem. Biophys. Res. Commun. 176, 1509-1515.
43. α-glucosidase from rabbit milk in Pompe patients. Lancet 356, 397-398.
44. Van der Ploeg, A.T., Kroos, M.A., Willemsen, R., Brons, N.H.C., and Reuser, A.J.J. (1991). Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice. J. Clin. Invest. 87, 513-518.
45. Walvoort, H.C., Slee, R.G., and Koster, J.F. (1982). Canine glycogen storage disease type II. Biochim. Biophysica. Acta. 715, 63-69.
46. Williams, R.S., Johnston, S., Reidy, M., Devit, M., Mcglligot, S., and Sanford, J. (1991). Introduction of foreign genes into tissues of living mice by DNA-coated microprojectiles. Proc. Natl. Acad. Sci. USA 88, 2726-2730.
47. Yang, N., Burkholder, J., Roberts, B., Martinell, B., and Mccabe, D. (1990). In vivo and in vitro gene transfer to mammalian somatic cells by particle bombardment. Proc. Natl. Acad. Sci. USA 87, 9568-9572.
48. β-galactosidase and human dystrophin genes are expressed in mouse skeletal muscle fibers after ballistic transfection. FEBS Lett. 414, 319-322.