Long-Term Correction of Ammonia Metabolism and Prolonged Survival in Ornithine Transcarbamylase-Deficient Mice Following Liver-Directed Treatment with Adeno-associated Viral Vectors

Molecular Therapy

Volumn 14, Issue 1, 2006, Pages 25-33

  Moscioni, David ^a,b   Morizono, Hiroki ^c   McCarter, Robert J ^c   Stern, Adam ^c   Cabrera Luque, Juan ^c   Hoang, Albert ^c   Sanmiguel, Julio ^a   Wu, Di ^a   Bell, Peter ^a   Gao, Guang Ping ^a   Raper, Steven E ^d   Wilson, James M ^a   Batshaw, Mark L ^c  

^a Institute for Human Gene Therapy   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^c CHILDREN S RESEARCH INSTITUTE   (United States)

^d HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

adeno associated virus; gene therapy; ornithine transcarbamylase deficiency; sparse fur mice; urinary orotate

Indexed keywords

AMMONIA; BETA GALACTOSIDASE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFICACY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXPRESSION VECTOR; FEMALE; FOLLOW UP; IN VITRO STUDY; LIVER METABOLISM; LIVER NODULE; LIVER TUMOR; MALE; MOUSE; MOUSE STRAIN; NONHUMAN; SEROTYPE; SURVIVAL TIME; VIRUS CAPSID; VIRUS RECOMBINANT;

AMMONIA; ANIMALS; BEHAVIOR, ANIMAL; DEPENDOVIRUS; FEMALE; GENE THERAPY; GENETIC VECTORS; LIVER; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, KNOCKOUT; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; OROTIC ACID; SURVIVAL ANALYSIS; TIME FACTORS;

ANIMALIA; MIRIDAE;

EID: 33745118671     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2006.03.009     Document Type: Article

References (35)

1. Brusilow S.W., and Horwich A.L. Urea Cycle Enzymes (1966), McGraw-Hill, New York 1187-1232
2. Msall M., Batshaw M.L., Suss R., Brusilow S.W., and Mellits E.D. Neurologic outcome in children with inborn errors of urea synthesis: outcome of urea-cycle enzymopathies. N. Engl. J. Med. 310 (1984) 1500-1505
3. Gropman A.L., and Batshaw M.L. Cognitive outcome in urea cycle disorders. Mol. Genet. Metab. 81 Suppl. 1 (2004) S58-S62
4. Batshaw M.L., Msall M., Beaudet A.L., and Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J. Pediatr. 108 (1986) 236-241
5. Maestri N.E., Brusilow S.W., Clissold D.B., and Bassett S.S. Long-term treatment of girls with ornithine transcarbamylase deficiency. N. Engl. J. Med. 335 (1996) 855-859
6. Todo S., et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 15 (1992) 419-422
7. Leonard J.V., and McKiernan P.J. The role of liver transplantation in urea cycle disorders. Mol. Genet. Metab. 81 Suppl. 1 (2004) S74-S78
8. Stratford-Perricaudet L.D., Levrero M., Chasse J.F., Perricaudet M., and Briand P. Evaluation of the transfer and expression in mice of an enzyme-encoding gene using a human adenovirus vector. Hum. Gene Ther. 3 (1990) 241-256
9. Li Q., Kay M.A., Finegold M., Stratford-Perricaudet L.D., and Woo S.L. Assessment of recombinant adenoviral vectors for hepatic gene therapy. Hum. Gene Ther. 4 (1993) 403-409
10. Yang Y., Nunes F.A., Berencsi K., Furth E.E., Gonczol E., and Wilson J.M. Cellular immunity to viral antigens limits E1-deleted adenoviruses for gene therapy. Proc. Natl. Acad. Sci. USA 91 (1994) 4407-4411
11. Ye X., Robinson M.B., Batshaw M.L., Furth E.E., Smith I., and Wilson J.M. Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J. Biol. Chem. 271 (1996) 3639-3646
12. Mian A., Guenther M., Finegold M., Ng P., Rodgers J., and Lee B. Toxicity and adaptive immune response to intracellular transgenes delivered by helper-dependent vs. first generation adenoviral vectors. Mol. Genet. Metab. 84 (2005) 278-288
13. Raper S.E., et al. A pilot study of in vivo liver-directed gene transfer with an adenoviral vector in partial ornithine transcarbamylase deficiency. Hum. Gene. Ther. 13 (2002) 163-175
14. Raper S.E., et al. Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer. Mol. Genet. Metab. 80 (2003) 148-158
15. Jooss K., and Chirmule N. Immunity to adenovirus and adeno-associated viral vectors: implications for gene therapy. Gene Ther. 10 (2003) 955-963
16. Rabinowitz J.E., and Samulski J. Adeno-associated virus expression systems for gene transfer. Curr. Opin. Biotechnol. 9 (1998) 470-475
17. Jooss K., Yang Y., Fisher K.J., and Wilson J.M. Transduction of dendritic cells by DNA viral vectors directs the immune response to transgene products in muscle fibers. J. Virol. 72 (1998) 4212-4223
18. Bals R., Xiao W., Sang N., Weiner D.J., Meegalla R.L., and Wilson J.M. Transduction of well-differentiated airway epithelium by recombinant adeno-associated virus is limited by vector entry. J. Virol. 73 (1999) 6085-6088
19. Auricchio A., et al. Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: the retina as a model. Hum. Mol. Genet. 10 (2001) 3075-3081
20. Rabinowitz J.E., et al. Cross-packaging of a single adeno-associated virus (AAV) type 2 vector genome into multiple AAV serotypes enables transduction with broad specificity. J. Virol. 76 (2002) 791-801
21. Gao G.P., Alvira M.R., Wang L., Calcedo R., Johnston J., and Wilson J.M. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc. Natl. Acad. Sci. USA 99 (2002) 11854-11859
22. Grimm D., et al. Preclinical in vivo evaluation of pseudotyped adeno-associated virus vectors for liver gene therapy. Blood 102 (2003) 2412-2419
23. Veres G., Gibbs R.A., Scherer S.E., and Caskey C.T. The molecular basis of the sparse fur mouse mutation. Science 237 (1987) 415-417
24. Rosenberg L.E., Kalousek F., and Orsulak M.D. Biogenesis of ornithine transcarbamylase in spfash mutant mice: two cytoplasmic precursors, one mitochondrial enzyme. Science 222 (1983) 426-428
25. Hodges P.E., and Rosenberg L.E. The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing. Proc. Natl. Acad. Sci. USA 86 (1989) 4142-4146
26. Qureshi I.A., Letarte J., and Ouellet R. Ornithine transcarbamylase deficiency in mutant mice. I. Studies on the characterization of enzyme defect and suitability as animal model of human disease. Pediatr. Res. 13 (1979) 807-811
27. Ye X., et al. Adenovirus-mediated in vivo gene transfer rapidly protects ornithine transcarbamylase-deficient mice from an ammonium challenge. Pediatr. Res. 41 (1997) 527-534
28. Wang L., Zoppe M., Hackeng T.M., Griffin J.H., Lee K.F., and Verma I.M. A factor IX-deficient mouse model for hemophilia B gene therapy. Proc. Natl. Acad. Sci. USA 94 (1997) 11563-11566
29. Gao G., et al. Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo. Hum. Gene Ther. 11 (2000) 2079-2091
30. Iyer R.K., et al. Mouse model for human arginase deficiency. Cell Biol. 22 (2002) 4491-4498
31. McCann M.T., Thompson M.M., Gueron I.C., and Tuchman M. Quantification of orotic acid in dried filter-paper urine samples by stable isotope dilution. Clin. Chem. 41 (1995) 739-743
32. Lee J.T., and Nussbaum R.L. An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells. J. Clin. Invest. 84 (1989) 1762-1766
33. Mizutani A. Cytochemical demonstration of ornithine carbamoyltransferase activity in liver mitochondria of rat and mouse. J. Histochem. Cytochem. 16 (1968) 172-180
34. McCarty D.M., Fu H., Monahan P.E., Toulson C.E., Naik P., and Samulski R.J. Adeno-associated virus terminal repeat (TR) mutant generates self-complementary vectors to overcome the rate-limiting step to transduction in vivo. Gene Ther. 10 (2003) 2112-2118
35. Bell, P. et al. (in press). Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver. Mol. Ther..