Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse

Molecular Therapy

Volumn 10, Issue 3, 2004, Pages 478-491

  Sferra, Thomas J ^a,b   Backstrom, Kristin ^a   Wang, Chuansong ^a,b   Rennard, Rachel ^a   Miller, Matt ^a   Hu, Yan ^a,b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Adeno associated virus; Gene therapy; Gene transfer techniques; Lysosomal storage diseases; Mucopolysaccharidosis VII

Indexed keywords

BETA GLUCURONIDASE;

ADENO ASSOCIATED VIRUS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN REGION; CONTROLLED STUDY; DISEASE COURSE; ENZYME ACTIVITY; GENE EXPRESSION; GENE TRANSFER; GENETIC ENGINEERING; GENOME ANALYSIS; GLIA CELL; HEART; HISTOPATHOLOGY; INJECTION; KIDNEY; LIVER; LUNG; LYSOSOME STORAGE DISEASE; MORQUIO SYNDROME; MOUSE; NERVE CELL; NONHUMAN; SPLEEN; TRANSGENE; VIRUS RECOMBINANT; WILD TYPE;

ADENOVIRIDAE; ALPHA-GALACTOSIDASE; ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; GLUCURONIDASE; INJECTIONS; LIVER; LYSOSOMES; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; MUCOPOLYSACCHARIDOSIS VII; ORGAN SPECIFICITY; PEPTIDE ELONGATION FACTOR 1; PROMOTER REGIONS (GENETICS);

ADENO-ASSOCIATED VIRUS; ADENO-ASSOCIATED VIRUS 2; ANIMALIA; MURINAE;

EID: 4444229470     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2004.05.029     Document Type: Article

References (53)

1. Neufeld E.F. Muenzer J. The mucopolysaccharidoses Scriver C.R. Beaudet A.L. Sly W.S. and Valle D. (Eds.). The Metabolic & Molecular Bases of Inherited Disease 2001 3421-3452 McGraw-Hill New York
2. Peters C. Steward C.G. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines Bone Marrow Transplant. 31 2003 229-239
3. Kakkis E.D. Enzyme replacement therapy for the mucopolysaccharide storage disorders Expert Opin. Invest. Drugs 11 2002 675-685
4. Sly W.S. Quinton B.A. McAlister W.J. Rimoin D.L. β-Glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis J. Pediatr. 82 1973 249-257
5. Birkenmeier E.H. et al. Murine mucopolysaccharidosis type VII: characterization of a mouse with β-glucuronidase deficiency J. Clin. Invest. 83 1989 1258-1266
6. Vogler C. Barker J. Sands M.S. Levy B. Galvin N. Sly W.S. Murine mucopolysaccharidosis VII: impact of therapies on the phenotype, clinical course, and pathology in a model of lysosomal storage disease Pediatr. Dev. Pathol. 4 2001 421-433
7. Sands M.S. Birkenmeier E.H. A single-base-pair deletion in the β-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII Proc. Natl. Acad. Sci. USA 90 1993 6567-6571
8. Vogler C. et al. A murine model of mucopolysaccharidosis VII: gross and microscopic findings in beta-glucuronidase-deficient mice Am. J. Pathol. 136 1990 207-217
9. Daly T.M. Ohlemiller K.K. Roberts 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
10. Kornfeld S. Structure and function of the mannose 6-phosphate/insulin like growth factor II receptors Annu. Rev. Biochem. 61 1992 307-330
11. Hille-Rehfeld A. Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes Biochim. Biophys. Acta 1241 1995 177-194
12. Dahms N.M. Hancock M.K. P-type lectins. Biochim. Biophys. Acta 1572 2002 317-340
13. Gao C. Sands M.S. Haskins M.E. Ponder K.P. Delivery of a retroviral vector expressing human β-glucuronidase to the liver and spleen decreases lysosomal storage in mucopolysaccharidosis VII mice Mol. Ther. 2 2000 233-244
14. Stein C.S. et al. In vivo treatment of hemophilia A and mucopolysaccharidosis type VII using nonprimate lentivirus vectors Mol. Ther. 3 2001 850-856
15. 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
16. Ohashi T. Watabe K. Uehara K. Sly W.S. Vogler C. Eto Y. Adenovirus-mediated gene transfer and expression of human β-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice Proc. Natl. Acad. Sci. USA 94 1997 1287-1292
17. Stein C.S. Ghodsi A. Derksen T. Davidson B.L. Systemic and central nervous system correction of lysosomal storage in mucopolysaccharidosis type VII mice J. Virol. 73 1999 3424-3429
18. Kosuga M. Adenovirus-mediated gene therapy for mucopolysaccharidosis VII: involvement of cross-correction in wide-spread distribution of the gene products and long-term effects of CTLA-4Ig coexpression Mol. Ther. 1 2000 406-413
19. Xia H. Mao Q. Davidson B.L. The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors Nat. Biotechnol. 19 2001 640-644
20. Li X.-K. et al. Prolongation of transgene expression by coexpression of cytokine response modifier A in rodent liver after adenoviral gene transfer Mol. Ther. 5 2002 262-268
21. Watson G.L. et al. Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus Gene Ther. 5 1998 1642-1649
22. 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. USA 96 1999 2296-2300
23. Daly T.M. Okuyama T. Vogler C. Haskins M.E. Muzyczka N. Sands M.S. Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice Hum. Gene Ther. 10 1999 85-94
24. Elliger S.S. Elliger C.A. Lang C. Watson G.L. Enhanced secretion and uptake of beta-glucuronidase improves adeno-associated viral-mediated gene therapy of mucopolysaccharidosis type VII mice Gene Ther. 5 2002 617-626
25. Clark K.R. Liu X. McGrath J.P. Johnson P.R. Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses Hum. Gene Ther. 10 1999 1031-1039
26. Sferra T.J. et al. Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse Hum. Gene Ther. 11 2000 507-519
27. Birkenmeier E.H. et al. Increased life span and correction of metabolic defects in murine MPS VII following syngeneic bone marrow transplantation Blood 78 1991 3081-3092
28. Ross C.J.D. Bastedo L. Maier S.A. Sands M.S. Chang P.L. Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells Hum. Gene Ther. 11 2000 2117-2127
29. Nakai H. Iwaki Y. Kay M.A. Couto L.B. Isolation of recombinant adeno-associated virus vector cellular DNA junctions from mouse liver J. Virol. 73 1999 5438-5447
30. Nathwani A.C. Davidoff A. Hanawa H. Zhou J.-F. Vanin E.F. Nienhuis A.W. Factors influencing in vivo transduction by recombinant adeno-associated viral vectors expressing the human factor IX cDNA Blood 97 2001 1258-1265
31. Mingozzi F. et al. Improved hepatic gene transfer by using an adeno-associated virus serotype 5 vector J. Virol. 76 2002 10497-10502
32. Grimm D. et al. Preclinical in vivo evaluation of pseudotyped adeno-associated virus vectors for liver gene therapy Blood 102 2003 2412-2419
33. Wolfe J.H. Sands M.S. Murine mucopolysaccharidosis type VII: a model system for somatic gene therapy of the central nervous system In Lowenstein P.R. and Enquist L.W. (Eds.). Protocols for Gene Transfer in Neuroscience: Towards Gene Therapy of Neurologic Disorders 1996 263-274 Wiley Essex
34. Taylor R.M. Wolfe J.H. Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of β-glucuronidase Nat. Med. 3 1997 771-774
35. Lau C. et al. Retroviral gene transfer into the intestinal epithelium Hum. Gene Ther. 6 1995 1145-1151
36. Guo Z.S. Wang L.H. Eisensmith R.C. Woo S.L. Evaluation of promoter strength for hepatic gene expression in vivo following adenovirus-mediated gene transfer Gene Ther. 3 1996 802-810
37. Snyder R.O. et al. Persistent and therapeutic concentrations of human factor IX in mice after hepatic gene transfer of recombinant AAV vectors Nat. Genet. 16 1997 270-276
38. Xiao W. Berta S.C. Lu M.M. Moscioni A.D. Tazelaar J. Wilson J.M. Adeno-associated virus as a vector for liver-directed gene therapy J. Virol. 72 1998 10222-10226
39. Miao C.H. et al. Nonrandom transduction of recombinant adeno-associated virus vectors in mouse hepatocytes in vivo: cell cycling does not influence hepatocyte transduction J. Virol. 74 2000 3793-3803
40. Chen S.-J. Tazelaar J. Wilson J.M. Selective repopulation of normal mouse liver by hepatocytes transduced in vivo with recombinant adeno-associated virus Hum. Gene Ther. 12 2001 45-50
41. Nakai H. et al. A limited number of transducible hepatocytes restricts a wide-range linear vector dose response in recombinant adeno-associated virus-mediated liver transduction J. Virol. 76 2002 11343-11349
42. Sly W.S. et al. Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice Proc. Natl. Acad. Sci. USA 98 2001 2205-2210
43. Chao H. Walsh C.E. Induction of tolerance to human factor VII in mice Blood 97 2001 3311-3312
44. Mount J.D. et al. Sustained phenotypic correction of hemophilia B dogs with factor IX null mutation by liver-directed gene therapy Blood 99 2002 2670-2676
45. Mingozzi F. et al. Induction of immune tolerance to coagulation factor IX antigen by in vivo hepatic gene transfer J. Clin. Invest. 111 2003 1347-1356
46. Daly T.M. Lorenz R.G. Sands M.S. Abnormal immune function in vivo in a murine model of lysosomal storage disease Pediatr. Res. 47 2000 757-762
47. Wawrzyniak C.J. et al. DNA determinants of structural and regulatory variation within the murine beta-glucuronidase gene complex Mol. Cell. Biol. 9 1989 4074-4078
48. a allele of the murine β-glucuronidase gene Mol. Cell. Biol. 8 1988 1160-1168
49. Uetsuki T. Naito A. Nagata S. Kaziro Y. Isolation and characterization of the human chromosomal gene for polypeptide chain elongation factor-1 alpha J. Biol. Chem. 264 1989 5791-5798
50. Clark K.R. Voulgaropoulou F. Fraley D.M. Johnson P.R. Cell lines for the production of recombinant adeno-associated virus Hum. Gene Ther. 6 1995 1329-1341
51. Clark K.R. Voulgaropoulou F. Johnson P.R. A stable cell line carrying adenovirus-inducible rep and cap genes allows for infectivity titration of adeno-associated virus vectors Gene Ther. 3 1996 1124-1132
52. Sferra T.J. McNeely D. Johnson P.R. Gene transfer to the intestinal tract: a new approach using selective injection of the superior mesenteric artery Hum. Gene Ther. 8 1997 681-687
53. Kyle J.W. Grubb J.H. Galvin N. Vogler C. β-Glucuronidase (GUS) assay in animal tissue Gallagher S.R. (Ed.). GUS Protocols: Using the GUS Gene as a Reporter of Gene Expression 1992 189-203 Academic Press San Diego