AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia

Molecular Therapy

Volumn 16, Issue 4, 2008, Pages 665-672

  Koeberl, Dwight D ^a   Pinto, Carlos ^b   Sun, Baodong ^a   Li, Songtao ^a   Kozink, Daniel M ^b   Benjamin Jr , Daniel K ^a   Demaster, Amanda K ^b   Kruse, Meghan A ^b   Vaughn, Valerie ^a,e   Hillman, Steven ^a   Bird, Andrew ^a   Jackson, Mark ^c   Brown, Talmage ^b   Kishnani, Priya S ^a   Chen, Yuan Tsong ^a,d  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

^d INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; BIOLOGICAL MARKER; GLUCOSE 6 PHOSPHATASE; GLYCOGEN; LACTIC ACID; PARVOVIRUS VECTOR; SCATTER FACTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DIET RESTRICTION; DOG; DRUG EFFICACY; ENZYME LOCALIZATION; GLYCOGEN STORAGE DISEASE TYPE 1; HYPOGLYCEMIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SURVIVAL TIME; URINALYSIS; VALIDATION PROCESS;

ADENO-ASSOCIATED VIRUS; ANIMALIA; CANIS FAMILIARIS; MURINAE; MUS;

EID: 41149109650     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2008.15     Document Type: Article

References (48)

1. Chen Y-T (2001). Glycogen storage diseases. In: Scriver, CR, Beaudet, AL, Sly, WS and Valle, D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York. pp. 1521-1551.
2. Franco, LM, Krishnamurthy, V, Bali, D, Weinstein, DA, Am, P, Clary, B et al. (2005). Hepatocellular carcinoma in glycogen storage disease type 1a: A case series. J Inherit Metah Dis 28: 153-162.
3. Lei, KJ, Chen, H, Pan, CJ, Ward, JM, Mosinger, B Jr., Lee, EJ et al. (1996). Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1 a mouse. Nat Genet 13: 203-209.
4. Zingone, A, Hiraiwa, H, Pan, CJ, Lin, B, Chen, H, Ward, JM et al. (2000). Correction of glycogen storage disease type 1a in a mouse model by gene therapy. J Biol Chem 275: 828-832.
5. Koeberl, DD, Sun, BD, Damodaran, TV, Brown, T, Millington, DS, Benjamin, DK Jr. et al. (2006). Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia. Gene Ther 13:1281-1289.
6. Ghosh, A, Allamarvdasht, M, Pan, CJ, Sun, MS, Mansfield, BC, Byrne, BJ et al. (2006). Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1 -mediated gene transfer. Gene Ther 13: 321-329.
7. Koeberl, DD, Sun, B, Bird, A, Chen, Y, Oka, K and Chan, L (2D07). Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia. Mol Ther 15: 1253-1258.
8. Perlman, M, Aker, M and Slonim, AE (1979). Successful treatment of severe type I glycogen storage disease with neonatal presentation by nocturnal intragastric feeding. J Pediatr 94: 772-774.
9. Kishnani, PS, Faulkner, E, VanCamp, S, Jackson, M, Brown, T, Boney, A et al. (2001). Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia). Vet Pathol 38: 83-91.
10. Beaty, RM, Jackson, M, Peterson, D, Bird, A, Brown, T, Benjamin, DK Jr. et al. (2002). Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors. Gene Ther 9: 1015-1022.
11. McCarty, DM, Monahan, PE and Samulski, RJ (2001). Self-complementary recombinant adeno-associated virus (scAAV) vectors promote efficient transduction independently of DNA synthesis. Gene Ther 8: 1248-1254.
12. Russell, DW, Alexander, IE and Miller, AD (1995). DNA synthesis and topoisomerase inhibitors increase transduction by adeno-associated virus vectors. Proc Natl Acad Sci USA 92: 5719-5723.
13. Ferrari, FK, Samulski, T, Shenk, T and Samulski, RJ (1996). Second-strand synthesis is a rate-limiting step for efficient transduction by recombinant adeno-associated virus vectors. J Virol 70: 3227-3234.
14. Lin, B, Morris, DW and Chou, JY (1997). The role of HNF1α, HNF3γ, and cyclic AMP in glucose-6-phosphatase gene activation. Biochemistry 36: 14096-14106.
15. Schmoll, D, Wasner, C, Hinds, CJ, Allan, BB, Walther, R and Burchell, A (1999). Identification of a cAMP response element Within the glucose-6-phosphatase hydrolytic subunit gene promoter which is involved in the transcriptional regulation by cAMP and glucocorticoids in H4HE hepatoma cells. Biochem J 338: 457-463.
16. Vander Kooi, BT, Streeper, RS, Svitek, CA, Oeser, JK, Powell, DR and O'Brien, RM (2003). The three insulin response sequences in the glucose-6-phosphatase catalytic subunit gene promoter are functionally distinct. J Biol Chem 278: 11782-11793.
17. Sun, MS, Pan, CJ, Shieh, JJ, Ghosh, A, Chen, LY, Mansfield, BC et al. (2002). Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. Hum Mol Genet 11: 2155-2164.
18. Trinh KY, O'Doherty, RM, Anderson, P, Lange, AJ and Newgard, CB (1998). Perturbation of fuel homeostasis caused by overexpression of the glucose-6-phosphatase catalytic subunit in liver of normal rats. J Biol Chem 273: 31615-31620.
19. Weinstein, DA, Somers, MJ and Wolfsdorf, JI (2001). Decreased urinary citrate excretion in type 1 a glycogen storage disease. J Pediatr 138: 378-382.
20. Brix, AE, Howerth, EW, McConkie-Rosell, A, Peterson, D, Egnor, D, Wells, MR et al. (1995). Glycogen storage disease type Ia in two littermate Maltese puppies. Vet Pathol 32: 460-465.
21. Wolfsdorf, JI, Laffel, LM and Crigler, JF Jr. (1997). Metabolic control and renal dysfunction in type I glycogen storage disease. J Inherit Metab Dis 20: 559-568.
22. Manno, CS, Pierce, GF, Arruda, VR, Glader, B, Ragni, M, Rasko, JJ et al. (2006). Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 12: 342-347.
23. Chen, YT, Comblath, M and Sidbury, JB (1984). Cornstarch therapy in type I glycogen-storage disease. N Engl J Med 310: 171-175.
24. Chen, YT, Bazzarre, CH, Lee, MM, Sidbury, JB and Coleman, RA (1993). Type I glycogen storage disease: Nine years of management with cornstarch. Eur J Pediatr 152 (Suppl. 1): S56-S59.
25. Mundy, HR, Hindmarsh, PC, Matthews, DR, Leonard, JV and Lee, PJ (2003). The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf) 58: 332-339.
26. Wolfsdorf, JI and Crigler, JF Jr. (1999). Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease. J Pediatr Gastroenterol Nutr 29: 136-143.
27. Matern, D, Starzl, TE, Amaout, W, Barnard, J, Bynon, JS, Dhawan, A et al. (1999). Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 158 (Suppl. 2): S43-S48.
28. Faivre, L, Houssin, D, Valayer, J, Brouard, J, Hadchouel, M and Bernard, O (1999). Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia. J Inherit Metab Dis 22: 723-732.
29. Arikan, C, Kilic, M, Nart, D, Ozgenc, F, Ozkan, T, Tokat, Y et al. (2006). Hepatocellular carcinoma in children and effect of living-donor liver transplantation on outcome. Pediatr Transplant 10: 42-47.
30. Liu, PP, de Villa, VH, Chen, YS, Wang, CC, Wang, SH, Chiang, YC et al. (2003). outcome of living donor liver transplatation for glycogen storage disease. Transplant Proc 35: 366-368.
31. Reddy, SK, Kishnani, PS, Sullivan, JA, Koeberl, DD, Desai, DM, Skinner, MA et al. (2007): Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia. J Hepatol 47: 658-663.
32. Bell, P, Moscioni, AD, McCarter, RJ, Wu, D, Gao, G, Hoang, A et al. (2006). Analysis of tumors arising in male B6C3F1 mice with and without AAV vector delivery to liver. Mol Ther 14: 34-44.
33. Donsante, A, Miller, DG, LI, Y, Vogler, C, Brunt, EM, Russell, DW et al. (2007). AAV vector integration sites in mouse hepatocellular carcinoma. Science 317: 477.
34. Bell, P, Wang, L, Lebherz, C, Flieder, DB, Bove, MS, Wu, D et al. (2005). No evidence for tumorigenesis of AAV vectors in a large-scale study in mice. Mol Ther 12: 299-306.
35. Schnepp, BC, Clark KR, Klemanski, DL, Pacak, CA and Johnson, PR (2003). Genetic fate of recombinant adeno-associated virus vector genomes in muscle. J Virol 77: 3495-3504.
36. McCarty, DM, Young, SM Jr. and Samulski, RJ (2004). Integration of adeno-associated virus (AAV) and recombinant AAV vectors. Annu Rev Genet 38: 819-845.
37. Rabinowitz, JE, Rolling, F, Li, C, Conrath, H, Xiao, W, Xiao, X et al. (2002). 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: 791-801.
38. Halbert, CL, Rutledge, EA, Allen, JM, Russell, DW and Miller, AD (2000). Repeat transduction in the mouse lung by using adeno-associated virus vectors with different serotypes. J Virol 74: 1524-1532.
39. Harding, CO, Gillingham, MB, Hamman, K, Clark, H, Goebel-Daghighi, E, Bird, A et al. (2006). Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. Gene Ther 13: 457-462.
40. Sun, B, Zhang, H, Franco, LM, Young, SP, Schneider, A, Bird, A et al. (2005). Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. Mol Ther 11: 57-65.
41. Franco, LM, Sun, B, Yang, X, Bird, A, Zhang, H, Schneider, A et al. (2005). Evasion of immune responses to introduced human acid α-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther 12: 876-884.
42. Zou, C, Ma, J, Wang, X, Guo, L, Zhu, Z, Stoops, J et al. (2007). Lack of Fas antagonism by Met in human fatty liver disease. Nat Med 13: 1078-1085.
43. Huh, CG, Factor, VM, Sánchez, A, Uchida, K, Conner, EA and Thorgeirsson, SS (2004). Hepatocyte growth factor/c-met signaling pathway is required for efficient liver regeneration and repair. Proc Natl Acad Sci USA 101: 4477-4482.
44. Borowiak, M, Garratt, AN, Wüstefeld, T, Strehle, M, Trautwein, C and Birchmeier, C (2004). Met provides essential signals for liver regeneration. Proc Natl Acad Sci USA 101: 10608-10613.
45. Comoglio, PM and Trusolino, L (2002). Invasive growth: From development to metastasis. J Clin Invest 109: 857-862.
46. Pan, CJ, Lei, KJ, Annabi, B, Hemrika, W and Chou, JY (1998). Transmembrane topology of glucose-6-phosphatase. J Biol Chem 273: 6144-6148.
47. Gao, GP, Alvira, MR, Wang, L, Calcedo, R, Johnston, J and Wilson, JM (2002). Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci USA 99: 11854-11859.
48. Jonges, GN, Van Noorden, CJ and Gossrau, R (1990.). Quantitative histochemical analysis of glucose-6-phosphatase activity in rat liver using an optimized cerium-diaminobenzidine method. J Histochem Cytochem 38: 1413-1419.