In vivo zinc finger nuclease-mediated targeted integration of a glucose-6-phosphatase transgene promotes survival in mice with glycogen storage disease Type IA

Molecular Therapy

Volumn 24, Issue 4, 2016, Pages 697-706

  Landau, Dustin J ^a,b   Brooks, Elizabeth Drake ^a   Perez Pinera, Pablo ^c,d   Amarasekara, Hiruni ^a,e   Mefferd, Adam ^b   Li, Songtao ^a   Bird, Andrew ^a   Gersbach, Charles A ^c   Koeberl, Dwight D ^a,b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Duke University   (United States)

^d University of Illinois at Urbana Champaign   (United States)

^e MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; PARVOVIRUS VECTOR; ZINC FINGER NUCLEASE; ENDONUCLEASE; GT(ROSA)26SOR NON-CODING RNA, MOUSE; UNTRANSLATED RNA; ZINC FINGER PROTEIN;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE LOCUS; GENE SEQUENCE; GENE TARGETING; GENE TRANSFER; GENE VECTOR; GLYCOGEN STORAGE DISEASE TYPE 1; GLYCOGEN STORAGE DISEASE TYPE IA; IN VIVO STUDY; KNOCKOUT MOUSE; LIVER CELL; MALE; MORTALITY; MOUSE; NONHUMAN; SURVIVAL; TRANSGENE; ADMINISTRATION AND DOSAGE; ANIMAL; CHEMISTRY; DISEASE MODEL; GENE THERAPY; GENETICS; GLYCOGEN STORAGE DISEASE TYPE I; METABOLISM; PROCEDURES; SURVIVAL ANALYSIS; TREATMENT OUTCOME;

ANIMALS; DISEASE MODELS, ANIMAL; ENDONUCLEASES; GENETIC THERAPY; GENETIC VECTORS; GLUCOSE-6-PHOSPHATASE; GLYCOGEN STORAGE DISEASE TYPE I; MICE; RNA, UNTRANSLATED; SURVIVAL ANALYSIS; TREATMENT OUTCOME; ZINC FINGERS;

EID: 84960158760     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2016.35     Document Type: Article

References (35)

1. Koeberl, DD, Kishnani, PS, Bali, D, and Chen, YT. (2009). Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab 20: 252-258
2. 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
3. Jiang, H, Lillicrap, D, Patarroyo-White, S, Liu, T, Qian, X, Scallan, CD, et al. (2006). Multiyear therapeutic benefit of AAV serotypes 2, 6, and 8 delivering factor VIII to hemophilia A mice, and dogs. Blood 108: 107-115
4. Koeberl, DD, Pinto, C, Sun, B, Li, S, Kozink, DM, Benjamin, DK Jr, et al. (2008). AAV vector-mediated reversal of hypoglycemia in canine, and murine glycogen storage disease type Ia. Mol Ther 16: 665-672
5. Sarkar, R, Mucci, M, Addya, S, Tetreault, R, Bellinger, DA, Nichols, TC, et al. (2006). Long-Term efficacy of adeno-Associated virus serotypes 8, and 9 in hemophilia a dogs, and mice. Hum Gene Ther 17: 427-439
6. Seppen, J, Bakker, C, de Jong, B, Kunne, C, van den Oever, K, Vandenberghe, K, et al. (2006). Adeno-Associated virus vector serotypes mediate sustained correction of bilirubin UDP glucuronosyltransferase deficiency in rats. Mol Ther 13: 1085-1092
7. Zincarelli, C, Soltys, S, Rengo, G, and Rabinowitz, JE. (2008). Analysis of AAV serotypes 1-9 mediated gene expression, and tropism in mice after systemic injection. Mol Ther 16: 1073-1080
8. Luo, X, Hall, G, Li, S, Bird, A, Lavin, PJ, Winn, MP, et al. (2011). Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-Associated virus vector. Mol Ther 19: 1961-1970
9. 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
10. Cunningham, SC, Dane, AP, Spinoulas, A, Logan, GJ, and Alexander, IE. (2008). Gene delivery to the juvenile mouse liver using AAV2/8 vectors. Mol Ther 16: 1081-1088
11. Weinstein, DA, Correia, CE, Conlon, T, Specht, A, Verstegen, J, Onclin-Verstegen, K, et al. (2010). Adeno-Associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther 21: 903-910
12. Yiu, WH, Lee, YM, Peng, WT, Pan, CJ, Mead, PA, Mansfield, BC, et al. (2010). Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy. Mol Ther 18: 1076-1084
13. Lee, YM, Jun, HS, Pan, CJ, Lin, SR, Wilson, LH, Mansfield, BC, et al. (2012). Prevention of hepatocellular adenoma, and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapy. Hepatology 56: 1719-1729
14. Sun, B, Li, S, Yang, L, Damodaran, T, Desai, D, Diehl, AM, et al. (2009). Activation of glycolysis, and apoptosis in glycogen storage disease type Ia. Mol Genet Metab 97: 267-271
15. Koeberl, DD, Sun, B, Bird, A, Chen, YT, Oka, K, and Chan, L. (2007). Efficacy of helperdependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia. Mol Ther 15: 1253-1258
16. Raju, BI, Leyvi, E, Seip, R, Sethuraman, S, Luo, X, Bird, A, et al. (2013). Enhanced gene expression of systemically administered plasmid DNA in the liver with therapeutic ultrasound, and microbubbles. IEEE Trans Ultrason Ferroelectr Freq Control 60: 88-96
17. Demaster, A, Luo, X, Curtis, S, Williams, KD, Landau, DJ, Drake, EJ, et al. (2012). Longterm efficacy following readministration of an adeno-Associated virus vector in dogs with glycogen storage disease type Ia. Hum Gene Ther 23: 407-418
18. Perez-Pinera, P, Ousterout, DG, and Gersbach, CA. (2012). Advances in targeted genome editing. Curr Opin Chem Biol 16: 268-277
19. Li, H, Haurigot, V, Doyon, Y, Li, T, Wong, SY, Bhagwat, AS, et al. (2011). In vivo genome editing restores haemostasis in a mouse model of haemophilia. Nature 475: 217-221
20. Anguela, XM, Sharma, R, Doyon, Y, Miller, JC, Li, H, Haurigot, V, et al. (2013). Robust ZFN-mediated genome editing in adult hemophilic mice. Blood 122: 3283-3287
21. Perez-Pinera, P, Ousterout, DG, Brown, MT, and Gersbach, CA. (2012). Gene targeting to the ROSA26 locus directed by engineered zinc finger nucleases. Nucleic Acids Res 40: 3741-3752
22. Wang, L, Takabe, K, Bidlingmaier, SM, Ill, CR, and Verma, IM. (1999). Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. Proc Natl Acad Sci USA 96: 3906-3910
23. Guschin, DY, Waite, AJ, Katibah, GE, Miller, JC, Holmes, MC, and Rebar, EJ. (2010). A rapid, and general assay for monitoring endogenous gene modification. Methods Mol Biol 649: 247-256
24. Barzel, A, Paulk, NK, Shi, Y, Huang, Y, Chu, K, Zhang, F, et al. (2015). Promoterless gene targeting without nucleases ameliorates haemophilia B in mice. Nature 517: 360-364
25. Davidoff, AM, Ng, CY, Zhou, J, Spence, Y, and Nathwani, AC. (2003). Sex significantly influences transduction of murine liver by recombinant adeno-Associated viral vectors through an androgen-dependent pathway. Blood 102: 480-488
26. Kishnani, PS, Austin, SL, Abdenur, JE, Arn, P, Bali, DS, Boney, A, et al.; American College of Medical Genetics, and Genomics. (2014). Diagnosis, and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics, and Genomics. Genet Med 16: e1
27. Hockemeyer, D, Soldner, F, Beard, C, Gao, Q, Mitalipova, M, DeKelver, RC, et al. (2009). Efficient targeting of expressed, and silent genes in human ESCs, and iPSCs using zinc-finger nucleases. Nat Biotechnol 27: 851-857
28. DeKelver, RC, Choi, VM, Moehle, EA, Paschon, DE, Hockemeyer, D, Meijsing, SH, et al. (2010). Functional genomics, proteomics, and regulatory DNA analysis in isogenic settings using zinc finger nuclease-driven transgenesis into a safe harbor locus in the human genome. Genome Res 20: 1133-1142
29. Tay, FC, Tan, WK, Goh, SL, Ramachandra, CJ, Lau, CH, Zhu, H, et al. (2013). Targeted transgene insertion into the AAVS1 locus driven by baculoviral vector-mediated zinc finger nuclease expression in human-induced pluripotent stem cells. J Gene Med 15: 384-395
30. Sharma, R, Anguela, XM, Doyon, Y, Wong, SY, Paschon, DE, Li, H, et al. In: Vivo ZFN Mediated Targeting of Albumin as a Platform for Expression of Multiple Therapeutic Genes. The American Society of Gene, and Cell Therapy, vol. 21. Molecular Therapy: Salt Lake City, Utah, 2013. pp. S188-189
31. Grompe, M. (2006). Principles of therapeutic liver repopulation. J Inherit Metab Dis 29: 421-425
32. Mural, RJ, Adams, MD, Myers, EW, Smith, HO, Miklos, GL, Wides, R, et al. (2002). A comparison of whole-genome shotgun-derived mouse chromosome 16, and the human genome. Science 296: 1661-1671
33. 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-1a mouse. Nat Genet 13: 203-209
34. Livak, KJ, and Schmittgen, TD. (2001). Analysis of relative gene expression data using real-Time quantitative PCR, and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408
35. Dane, AP, Wowro, SJ, Cunningham, SC, and Alexander, IE. (2013). Comparison of gene transfer to the murine liver following intraperitoneal, and intraportal delivery of hepatotropic AAV pseudo-serotypes. Gene Ther 20: 460-464