Minimal ureagenesis is necessary for survival in the murine model of hyperargininemia treated by AAV-based gene therapy

Gene Therapy

Volumn 22, Issue 2, 2015, Pages 111-115

  Hu, C ^a   Tai, D S ^a   Park, H ^a   Cantero, G ^a   Chan, E ^a   Yudkoff, M ^b   Cederbaum, S D ^a,c   Lipshutz, G S ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGINASE 1; ARGININE; GLUTAMINE; AMMONIA; ARG1 PROTEIN, MOUSE; ARGINASE;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL PROLIFERATION; CELL SURVIVAL; CONTROLLED STUDY; ENZYME ACTIVITY; HYPERARGININEMIA; IMMUNOHISTOCHEMISTRY; LIVER CELL; LIVER PARENCHYMA; LONG TERM SURVIVAL; MOUSE; NONHUMAN; PRIORITY JOURNAL; TREATMENT OUTCOME; UREA CYCLE; VIRAL GENE THERAPY; ANIMAL; BLOOD; DEPENDOPARVOVIRUS; DISEASE MODEL; ENZYMOLOGY; GENE THERAPY; GENETICS; HYPERAMMONEMIA; KNOCKOUT MOUSE; LIVER; METABOLISM; PATHOLOGY;

ADENO-ASSOCIATED VIRUS; ANIMALIA; MURINAE; MUS;

AMMONIA; ANIMALS; ARGINASE; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; GENETIC THERAPY; HYPERAMMONEMIA; HYPERARGININEMIA; LIVER; MICE; MICE, KNOCKOUT;

EID: 84922333750     PISSN: 09697128     EISSN: 14765462     Source Type: Journal    
DOI: 10.1038/gt.2014.106     Document Type: Article

References (24)

1. Summar M, Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J Pediatr 2001; 138: S6-10.
2. Batshaw ML, Brusilow S, Waber L, Blom W, Brubakk AM, Burton BK et al. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med 1982; 306: 1387-1392.
3. Prasad AN, Breen JC, Ampola MG, Rosman NP. Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol 1997; 12: 301-309.
4. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab 2011; 104: 107-111.
5. Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U et al. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr 2003; 142: 349-352.
6. Lee EK, Hu C, Bhargava R, Rozengurt N, Stout D, Grody WW et al. Long-term survival of the juvenile lethal arginase-deficient mouse with AAV gene therapy. Mol Therapy 2012; 20: 1844-1851.
7. Lee EK, Hu C, Bhargava R, Ponnusamy R, Park H, Novicoff S et al. AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse. Gene Therapy 2013; 20: 785-796.
8. Hu C, Kasten J, Park H, Bhargava R, Tai DS, Grody WW et al. Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. Mol Therapy 2014; 22: 1792-1802.
9. 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.
10. Hu C, Lipshutz GS. AAV-based neonatal gene therapy for hemophilia A: long-term correction and avoidance of immune responses in mice. Gene Ther 2012; 19: 1166-1176.
11. Yudkoff M, Daikhin Y, Ye X, Wilson JM, Batshaw ML. In vivo measurement of ureagenesis with stable isotopes. J Inherit Metab Dis 1998; 21: 21-29.
12. Iyer RK, Yoo PK, Kern RM, Rozengurt N, Tsoa R, O'Brien WE et al. Mouse model for human arginase deficiency. Mol Cell Biol 2002; 22: 4491-4498.
13. Mew NA, Yudkoff M, Tuchman M. Stable isotopes in the diagnosis and treatment of inherited hyperammonemia. J Pediatr Biochem 2014; 4: 57-63.
14. Yudkoff M, Ah Mew N, Daikhin Y, Horyn O, Nissim I, Payan I et al. Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab 2010; 100: S37-S41.
15. Ah Mew N, Payan I, Daikhin Y, Nissim I, Tuchman M, Yudkoff M. Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis. Mol Genet Metab 2009; 98: 325-330.
16. Tuchman M, Caldovic L, Daikhin Y, Horyn O, Nissim I, Korson M et al. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr Res 2008; 64: 213-217.
17. Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M et al. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr 2004; 145: 552-554.
18. Gau CL, Rosenblatt RA, Cerullo V, Lay FD, Dow AC, Livesay J et al. Short-term correction of arginase deficiency in a neonatal murine model with a helperdependent adenoviral vector. Mol Ther 2009; 17: 1155-1163.
19. Miller RE, Pope SR, DeWille JW, Burns DM. Insulin decreases and hydrocortisone increases the synthesis of glutamine synthetase in cultured 3T3-L1 adipocytes. J Biol Chem 1983; 258: 5405-5413.
20. Moscioni D, Morizono H, McCarter RJ, Stern A, Cabrera-Luque J, Hoang A et al. Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Mol Ther 2006; 14: 25-33.
21. 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 Spf(ash) mice. Mol Ther 2009; 17: 1340-1346.
22. 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; 21: 1823-1831.
23. Kasten J, Hu C, Bhargava R, Park H, Tai D, Byrne JA et al. Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse. Mol Genet Metab 2013; 110: 222-230.
24. Jones BN, Gilligan JP. o-Phthaldialdehyde precolumn derivatization and reversed-phase high-performance liquid chromatography of polypeptide hydrolysates and physiological fluids. J Chromatogr 1983; 266: 471-482.