Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs

Molecular Genetics and Metabolism

Volumn 82, Issue 1, 2004, Pages 4-19

  Mango, Robert L ^a   Xu, Lingfei ^a   Sands, Mark S ^a   Vogler, Carole ^b   Seiler, Gabriela ^c   Schwarz, Tobias ^c   Haskins, Mark E ^c   Ponder, Katherine Parker ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Glucuronidase; Gene therapy; Glycosaminoglycans; Lysosomal storage disease; Mucopolysaccharidosis VII; Retroviral vector

Indexed keywords

BETA GLUCURONIDASE; RETROVIRUS VECTOR; SCATTER FACTOR;

ANIMAL MODEL; ANIMAL TISSUE; ARTHROPATHY; ARTICLE; BONE CELL; BONE DISEASE; BONE EROSION; CARTILAGE CELL; CHONDROPATHY; CONTROLLED STUDY; CRANIOFACIAL MORPHOLOGY; DOG; DRUG EFFECT; ENZYME ACTIVITY; FEMALE; FEMUR HEAD; GENE THERAPY; GROWTH PLATE; HYPERPLASIA; LEG LENGTHENING; LIVER; LYSOSOME STORAGE DISEASE; MALE; MOUSE; MUCOPOLYSACCHARIDOSIS TYPE 7; NEWBORN; NONHUMAN; OSTEOCYTE; PRIORITY JOURNAL; SYNOVIUM; TRACHEA;

ANIMALS; ANIMALS, NEWBORN; BONE AND BONES; BONE DISEASES; CARTILAGE DISEASES; DOGS; FACE; FEMALE; GENE THERAPY; GENETIC VECTORS; GLUCURONIDASE; HEPATOCYTES; JOINT DISEASES; JOINTS; MALE; MICE; MOLONEY MURINE LEUKEMIA VIRUS; MUCOPOLYSACCHARIDOSIS VII; MUSCULOSKELETAL DISEASES; TRACHEA;

CANIS FAMILIARIS;

EID: 1942521291     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.01.015     Document Type: Article

References (32)

1. Neufeld E.F., Muenzer J. The Mucopolysaccharidoses. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. Metabolic and Molecular Basis of Inherited Disease. 2001;3421-3452 McGraw-Hill, New York.
2. Sheridan O., Wortman J., Harvey C., Hayden J., Haskins M.E. Craniofacial abnormalities in animal models of mucopolysaccharidosis I, VI, and VII. J. Craniofac. Genet. Dev. Biol. 14:1994;7-15.
3. Trowbridge J.M., Gallo R.L. Dermatan sufate: new functions from an old glycosaminoglycan. Glycobiology. 12:2002;117R-125R.
4. Tumova S., Woods A., Couchman J.R. Heparan sulfate proteoglycans on the cell surface: versatile coordinators of cellular functions. Int. J. Biochem. Cell Biol. 32:2000;269-288.
5. Vogler C.A., Birkenmeier E.H., Sly W.S., Levy B., Pegors C., Kyle J.W., Beamer W.G. A murine model of mucopolysaccharidosis VII. Am. J. Pathol. 136:1990;207-217.
6. Monroy M.A., Ross F.P., Teitelbaum S.L., Sands M.S. Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. Bone. 30:2002;352-359.
7. Abreu S., Hayden J., Berthold P., Shapiro I.M., Decker S., Patterson D., Haskins M.E. Growth plate pathology in feline mucopolysaccharidosis VI. Calcif. Tissue Int. 57:1995;185-190.
8. Simonaro C.M., Haskins M.E., Schuchman E.H. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab. Invest. 81:2001;1319-1328.
9. Rees S.G., Wassell D.T.H., Waddington R.J., Embery G. Interaction of bone proteoglycans and proteoglycan components with hydroxyapatite. Biochim. Biophys. Acta. 1568:2001;118-128.
10. Rees S.G., Shellis R.P., Embery G. Inhibition of hydroxyapatite crystal growth by bone proteoglycans and proteoglycan components. Biochem. Biophys. Res. Commun. 292:2002;727-733.
11. Birkenmeier E.H., Davisson M.T., Beamer W.G., Ganschow R.E., Vogler C.A., Gwynn B., Lyford K.A., Maltais L.M., Wawrzyniak C.J. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J. Clin. Invest. 83:1989;1258-1266.
12. Ray J., Scarpino V., Laing C., Haskins M.E. Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. J. Hered. 90:1999;119-123.
13. Fyfe J.C., Kurzhals R.L., Lassaline M.E., Henthorn P.S., Alur P.R., Wang P., Wolfe J.H., Giger U., Haskins M.E., Patterson D.F., Sun H., Jain S., Yuhki N. Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics. 58:1999;121-128.
14. Kornfeld S. Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annu. Rev. Biochem. 61:1992;307-330.
15. Sands M.S., Vogler C., Kyle J.W., Grubb J.H., Levy B., Galvin N., Sly W.S., Birkenmeier E.H. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J. Clin. Investig. 93:1994;2324-2331.
16. Vogler C., Sands M.S., Levy B., Galvin N., Birkenmeier E.H., Sly W.S. Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis type VII: impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival. Pediatr. Res. 39:1996;1050-1054.
17. Sands M.S., Vogler C.A., Torrey A., Levy B., Gwynn B., Grubb J., Sly W.S., Birkenmeier E.H. Murine mucopolysaccharidosis type VII: long term therapeutic effects of enzyme replacement and enzyme replacement followed by bone marrow transplantation. J. Clin. Invest. 99:1997;1596-1605.
18. Sands M.S., Barker J.E., Vogler C.A., Levy B., Gwynn B., Galvin N., Sly W.S., Birkenmeier E.H. Treatment of murine mucopolysaccharidosis type VII by syngeneic bone marrow transplantation in neonates. Lab. Invest. 68:1993;676-686.
19. Soper B.W., Lessard M.D., Vogler C.A., Levy B., Beamer W.G., Sly W.S., Barker J.E. Nonablative neonatal marrow transplantation attenuates functional and physical defects of b-glucuronidase deficiency. Blood. 97:2001;1496-1504.
20. Daly T.M., Vogler C., Levy B., Haskins M.E., Sands M.S. Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc. Natl. Acad. Sci. 96:1999;2296-2300.
21. Daly T.M., Ohlemiller K.K., Robert M.S., Vogler C.A., Sands M.S. Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene transfer. Gene Ther. 8:2001;1291-1298.
22. Elliger S.S., Elliger C.A., Lang C., Watson G.L. Enhanced secretion and uptake of β-glucuronidase improves adeno-associated viral-mediated gene therapy of mucopolysaccharidosis type VII mice. Mol. Ther. 5:2002;617-626.
23. Kamata Y., Tanabe A., Kanaji A., Kosuga M., Fukuhara Y., Li X.K., Suzuki S., Yamada M., Azuma N., Okuyama T. Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. Gene Ther. 10:2003;406-414.
24. Kanaji A., Kosuga M., Li X.K., Fukuhara Y., Tanabe A., Kamata Y., Azuma N., Yamada M., Sakamaki T., Toyama Y., Okuyama T. Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. Mol. Ther. 8:2003;718-725.
25. Xu L., Mango R.L., Sands M.S., Haskins M.E., Ellinwood N.M., Ponder K.P. Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy. Mol. Ther. 6:2002;745-758.
26. Ponder K.P., Melniczek J.R., Xu L., Weil M.A., O'Malley T.M., O'Donnell P.A., Knox V.W., Aguirre G.D., Mazrier H., Ellinwood N.M., Sleeper M., Maguire A.M., Volk S.W., Mango R.L., Zweigle J., Wolfe J.H., Haskins M.E. Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. USA. 99:2002;13102-13107.
27. Xu L., Haskins M.E., Melniczek J.R., Gao C., Weil M.A., O'Malley T.M., O'Donnell P.A., Mazrier H., Ellinwood N.M., Zweigle J., Wolfe J.H., Ponder K.P. Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. Mol. Ther. 5:2002;141-153.
28. Barker J.E., Deveau S., Lessard M., Hamblen N., Vogler C., Levy B. In utero fetal liver cell transplantation without toxic irradiation alleviates lysosomal storage in mice with mucopolysaccharidosis typeVII. Blood Cells Mol. Dis. 27:2001;861-873.
29. 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., Cavazzana-Calvo M. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science. 302:2003;415-419.
30. Donsante A., Vogler C., Muzyczka N., Crawford J.M., Barker J., Flotte T., Campbell-Thompson M., Daly T., Sands M.S. Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors. Gene Ther. 17:2001;1343-1346.
31. Vogler C.A., Galvin N., Levy B., Grubb J., Jiang J., Zhou X.Y., Sly W.S. Transgene produces massive overexpression of human b-glucuronidase in mice, lysosomal storage of enzyme, and strain-dependent tumors. PNAS. 100:2003;2669-2673.
32. L. Xu, T. O'Malley, M.S. Sands, B. Wang, T. Myerose, M.E. Haskins, K. Parker Ponder, In vivo transduction of hematopoietic stem cells after neonatal intravenous injection of an amphotropic retroviral vector in mice, submitted for publication.