AAV-encoded OTC activity persisting to adulthood following delivery to newborn spf ash mice is insufficient to prevent shRNA-induced hyperammonaemia

Gene Therapy

Volumn 20, Issue 12, 2013, Pages 1184-1187

  Cunningham, S C ^a,b   Kok, C Y ^a   Spinoulas, A ^a   Carpenter, K H ^a,c   Alexander, I E ^a,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

adeno associated virus; hyperammonaemia; shRNA knockdown; urea cycle

Indexed keywords

AMMONIA; ORNITHINE CARBAMOYLTRANSFERASE; PARVOVIRUS VECTOR; SHORT HAIRPIN RNA;

ADENO ASSOCIATED VIRUS; ADULTHOOD; AMMONIA BLOOD LEVEL; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; DELIVERY; ENZYME ACTIVITY; GENE SILENCING; GENOME; HUMAN; HYPERAMMONEMIA; IMMUNE RESPONSE; LIVER CELL; MALE; MOUSE; NEWBORN; NEWBORN PERIOD; NONHUMAN; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PRIORITY JOURNAL; VIRAL GENE THERAPY; VIRUS CAPSID; WILD TYPE;

ADENO-ASSOCIATED VIRUS; MUS;

ANIMALS; ANIMALS, NEWBORN; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; GENE KNOCKDOWN TECHNIQUES; GENETIC THERAPY; GENETIC VECTORS; HUMANS; HYPERAMMONEMIA; LIVER; MALE; MICE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; RNA, SMALL INTERFERING;

EID: 84890126653     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/gt.2013.51     Document Type: Article

References (21)

1. Nakai H, Yant SR, Storm TA, Fuess S, Meuse L, Kay MA. Extrachromosomal recombinant adeno-associated virus vector genomes are primarily responsible for stable liver transduction in vivo. J Virol 2001; 75: 6969-6976.
2. Miao CH, Snyder RO, Schowalter DB, Patijn GA, Donahue B, Winther B et al. The kinetics of rAAV integration in the liver. Nat Genet 1998; 19: 13-15.
3. Dando JS, Aiuti A, Deola S, Ficara F, Bordignon C. Optimisation of retroviral supernatant production conditions for the genetic modification of human CD34+ cells. J Gene Med 2001; 3: 219-227.
4. Wang Z, Zhu T, Qiao C, Zhou L, Wang B, Zhang J et al. Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol 2005; 23: 321-328.
5. Cunningham SC, Dane AP, Spinoulas A, Alexander IE. Gene delivery to the juvenile mouse liver using AAV2/8 vectors. Mol Ther 2008; 16: 1081-1088.
6. Wang L, Wang H, Bell P, McMenamin D, Wilson JM. Hepatic gene transfer in neonatal mice by adeno-associated virus serotype 8 vector. Hum Gene Ther 2012; 23: 533-539.
7. Nakai H, Montini E, Fuess S, Storm TA, Grompe M, Kay MA. AAV serotype 2 vectors preferentially integrate into active genes in mice. Nat Genet 2003; 34: 297-302.
8. Cunningham SC, Spinoulas A, Carpenter KH, Wilcken B, Kuchel PW, Alexander IE. AAV2/8-mediated correction of OTC deficiency is robust in adult but not neonatal spfash mice. Mol Ther 2009; 17: 1340-1346.
9. Cunningham SC, Kok CY, Dane AP, Carpenter K, Kizana E, Kuchel PW et al. Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene delivery. Mol Ther 2011; 19: 854-859.
10. Doolittle DP, Hulbert LL, Cordy C. A new allele of the sparse fur gene in the mouse. J Hered 1974; 65: 194-195.
11. Hu C, Busuttil RW, Lipshutz GS. RH10 provides superior transgene expression in mice when compared with natural AAV serotypes for neonatal gene therapy. J Gene Med 2010; 12: 766-778.
12. Jungermann K. Zonation of metabolism and gene expression in liver. Histochem Cell Biol 1995; 103: 81-91.
13. Bachmanov AA, Reed DR, Beauchamp GK, Tordoff MG. Food intake, water intake, and drinking spout side preference of 28 mouse strains. Behav Genet 2002; 32: 435-443.
14. Saphir O. Autopsy Diagnosis and Technique. 4th edn. Hoeber-Harper: New York, 1958
15. Wu Z, Asokan A, Samulski RJ. Adeno-associated virus serotypes: Vector toolkit for human gene therapy. Mol Ther 2006; 14: 316-327.
16. Kok CY, Cunningham SC, Carpenter KH, Dane AP, Siew SM, Logan GJ et al. Adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice. Mol Ther 2013; e-pub ahead of print 2 July 2013; doi:10.1038/mt.2013.139.
17. Graham FL, Smiley J, Russell WC, Nairn R. Characteristics of a human cell line transformed by DNA from human adenovirus type 5. J Gen Virol 1977; 36: 59-74.
18. Gao GP, Alvira MR, Wang L, Calcedo R, Johnston J, Wilson JM. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci USA 2002; 99: 11854-11859.
19. Lizee G, Aerts JL, Gonzales MI, Chinnasamy N, Morgan RA, Topalian SL. Real-time quantitative reverse transcriptase-polymerase chain reaction as a method for determining lentiviral vector titers and measuring transgene expression. Hum Gene Ther 2003; 14: 497-507.
20. Ye X, Robinson MB, Batshaw ML, Furth EE, Smith I, Wilson JM. Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors. J Biol Chem 1996; 271: 3639-3646.
21. Mulligan RC. The basic science of gene therapy. Science 1993; 260: 926-932.