Correction of multiple striated muscles in murine pompe disease through adeno-associated virus-mediated gene therapy

Molecular Therapy

Volumn 16, Issue 8, 2008, Pages 1366-1371

  Sun, Baodong ^a   Young, Sarah P ^a   Li, Ping ^a   Di, Chunhui ^a   Brown, Talmage ^b   Salva, Maja Z ^c   Li, Songtao ^a   Bird, Andrew ^a   Yan, Zhen ^a   Auten, Richard ^a   Hauschka, Stephen D ^d   Koeberl, Dwight D ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE BB; GLUCAN 1,4 ALPHA GLUCOSIDASE; MYOSIN HEAVY CHAIN ALPHA; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS; ADENO ASSOCIATED VIRUS 2; ADENO ASSOCIATED VIRUS 7; ADENO ASSOCIATED VIRUS 8; ADENO ASSOCIATED VIRUS 9; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DIAPHRAGM MUSCLE; DRUG DOSE COMPARISON; DRUG MEGADOSE; ENHANCER REGION; ENZYME REPLACEMENT; EXTENSOR DIGITORUM LONGUS MUSCLE; GASTROCNEMIUS MUSCLE; GLYCOGEN ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HEART MUSCLE; HINDLIMB; KNOCKOUT MOUSE; LOW DRUG DOSE; MOUSE; MUSCLE FUNCTION; NONHUMAN; PROMOTER REGION; PSEUDOTYPING; QUADRICEPS FEMORIS MUSCLE; ROTAROD TEST; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY;

ALPHA-GLUCOSIDASES; ANIMALS; CREATINE KINASE, MM FORM; DEPENDOVIRUS; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE THERAPY; GENETIC VECTORS; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HINDLIMB; MICE; MICE, KNOCKOUT; MUSCLE, SKELETAL; MUSCLE, STRIATED; MYOCARDIUM; MYOSIN HEAVY CHAINS; PROMOTER REGIONS, GENETIC; QUADRICEPS MUSCLE; TRANSDUCTION, GENETIC;

ADENO-ASSOCIATED VIRUS; MURINAE; MUS;

EID: 48349114962     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2008.133     Document Type: Article

References (32)

1. 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.
2. Sun, B, Zhang, H, Franco, LM, Brown, T, Bird, A, Schneider, A et al. (2005). Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther 11: 889-898.
3. Franco, LM, Sun, B, Yang, X, Bird, A, Zhang, H, Schneider, A et al. (2005). Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther 12: 876-884.
4. Mah, C, Cresawn, KO, Fraites, TJ Jr., Pacak, CA, Lewis, MA, Zolotukhin, I et al. (2005). Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. Gene Ther 12: 1405-1409.
5. Cresawn, KO, Fraites, TJ, Wasserfall, C, Atkinson, M, Lewis, M, Porvasnik, S et al. (2005). impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-dertved acid alpha-glucosidase in a model of glycogen storage disease type II. Hum Gene Ther 16: 68-80.
6. Kiang, A, Hartman, ZC, Liao, SX, Xu, F, Serra, D, Palmer, DJ et al. (2006). Fully deleted adenovirus persistently expressing GAA accomplishes long-term skeletal muscle glycogen correction in tolerant and nontolerant GSD-II mice. Mol Ther 13: 127-134.
7. Hirschhorn, R and Reuser, AJJ (2001). Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: Scriver, CR, Beaudet, AL, Sly, WS and Valle, D (eds). The Metabolic and Molecular Basis for Inherited Disease, 8th edn. McGraw-Hill: New York. pp. 3389-3420.
8. Ferrer, A, Wells, KE and Wells, DJ (2000). Immune responses to dystrophin: Implications for gene therapy of Duchenne muscular dystrophy. Gene Ther 7: 1439-1446.
9. Cordier, L, Gao, GP, Hack, AA, McNally, EM, Wilson, JM, Chirmule, N et al. (2001). Muscle-specific promoters may be necessary for adeno-associated virus-mediated gene transfer in the treatment of muscular dystrophies. Hum Gene Ther 12: 205-215.
10. Yuasa, K, Sakamoto, M, Miyagoe-Suzuki, Y, Tanouchi, A, Yamamoto, H, Li, J et al. (2002). Adeno-associated virus vector-mediated gene transfer into dystrophin-deficient skeletal muscles evokes enhanced immune response against the transgene product. Gene Ther 9: 1576-1588.
11. Hauser, MA, Robinson, A, Hartigan-O'Connor, D, Williams-Gregory, D, Buskin, JN, Apone, S et al. (2000). Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors. Mol Ther 2: 16-25.
12. Gregorevic, P, Blankinship, MJ, Allen, JM, Crawford, RW, Meuse, L, Miller, DG et al. (2004). Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med 10: 828-834.
13. Shield, MA, Haugen, HS, Clegg, CH and Hauschka, SD (1996). E-box sites and a proximal regulatory region of the muscle creatine kinase gene differentially regulate expression in diverse skeletal muscles and cardiac muscle of transgenic mice. Mol Cell Biol 16: 5058-5068.
14. Salva, MZ, Himeda, CL, Tai, PW, Nishiuchi, E, Gregorevic, P, Allen, JM et al. (2007). Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle. Mol Ther 15; 320-329.
15. Nakai, H, Fuess, S, Storm, TA, Muramatsu, S, Nara, Y and Kay, MA (2005). Unrestricted hepatocyte transduction with adeno-associated virus serotype 8 vectors in mice. J Virol 79: 214-224.
16. Wang, Z, Zhu, T, Qiao, CP, Zhou, LQ, Wang, B, Zhang, J et al. (2005). Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart. Nat Biotechnol 23: 321-328.
17. Rutledge, EA, Halbert, CL and Russell, DW (1998). Infectious clones and vectors derived from adeno-associated virus (AAV) serotypes other than AAV type 2. J Virol 72: 309-319.
18. Bostick, B, Ghosh, A, Yue, Y, Long, C and Duan, D (2007). Systemic AAV-9 transduction in mice is influenced by animal age but not by the route of administration. Gene Ther 14: 1605-1609.
19. Ding, EY, Hodges, BL, Hu, H, McVie-Wylie, AJ, Serra, D, Migione, FK et al. (2001). Long-term efficacy after [E1 -, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice. Hum Gene Ther 12: 955-965.
20. Raben, N, Plotz, P and Byme, BJ (2002). Acid alpha-glucosidase deficiency glycogenosis type II, Pompe disease). Curr Mol Med 2 145-166.
21. Fraites, TJ Jr., Schleissing, MR, Shanely, RA, Walter, GA Cloutier, DA, Zolotukhin, I et al. (2002). Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. Mol Ther 5: 571-578.
22. Raben, N, Danon, M, Gilbert AL, Dwivedi, S, Collins, B, Thurberg, BL et al. (2003). Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 80: 159-169.
23. Fukuda, T, Ewan, L, Bauer, M, Mattaliano, RJ, Zaal, K, Ralston, E et al. (2006). Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59: 700-708.
24. Blankinship, MJ, Gregorevic, P, Allen, JM, Harper, SQ, Harper, H, Halbert, CL et al. (2004). Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6. Mol Ther 10: 671-678.
25. Pruchnic, R, Cao, B, Peterson, ZQ, Xiao, Y, Li, J, Samulski, RJ et al. (2000). The use of adeno-assosiated virus to circumvent the maturation-dependent viral transduction of muscle fibers. Hum Gene Ther 11: 521-536.
26. Pacak, CA, Mah, CS, Thattaliyath, BD, Conlon, TJ, Lewis, MA, Cloutier, DE et al. (2006). Recombinant adeno-associated vinis serotype 9 leads to preferential cardiac transduction in vivo. Circ Res 99 e3-e9.
27. Inagaki, K, Fuess, S, Storm, TA, Gibson, GA, McTieman, CF, Kay, MA et al. (2006). Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8. Mol Ther 14: 45-53.
28. Sun, B, Chen, YT, Bird, A, Xu, F, Hou, YX, Amalfitano, A et al. (2003). Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector. Mol Ther 7: 467-477.
29. 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.
30. Raben, N, Nagaraju, K, Lee, E, Kessler, P. Byme, B, Lee, L et al. (1998). Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. J Biol Chem 273: 19086-19092.
31. Amalfitano, A, McVie-Wylie, AJ, Hu, H, Dawson, TL, Raben, N, Plotz, P et al. (1999). Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. Proc Natl Acad Sd USA 96: 8861-8866.
32. Young, SP, Stevens, RD, An, Y, Chen, YT and Millington, DS (2003). Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. Anal Biochem 316: 175-180.