Gene therapy for pyruvate dehydrogenase E1α deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors

Molecular Therapy

Volumn 6, Issue 3, 2002, Pages 394-399

  Owen IV, Renius ^a,b   Mandel, Ronald J ^a,b   Ammini, Chandramohan V ^a,b   Conlon, Thomas J ^a,b   Kerr, Douglas S ^a,b   Stacpoole, Peter W ^a,b   Flotte, Terence R ^a,b  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Adeno associated virus; Energy metabolism; Gene therapy; Lactic acidosis; Mitochondria; Oxidative phosphorylation; Pyruvate dehydrogenase complex; Rat

Indexed keywords

BETA ACTIN; GREEN FLUORESCENT PROTEIN; MESSENGER RNA; PARVOVIRUS VECTOR; PYRUVATE DEHYDROGENASE COMPLEX; VIRUS VECTOR;

ADENO ASSOCIATED VIRUS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOCHEMISTRY; CELL LINE; CONTROLLED STUDY; CORPUS STRIATUM; CYTOMEGALOVIRUS; ENHANCER REGION; ENZYME ACTIVITY; ENZYME SUBUNIT; FEASIBILITY STUDY; GENE EXPRESSION; GENE THERAPY; GENE TRANSFER; GENE TRANSLOCATION; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MITOCHONDRION; NERVE CELL; NONHUMAN; OBSERVATION; PROMOTER REGION; PROTEIN EXPRESSION; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; RAT; VIRUS HYBRID; VIRUS RECOMBINANT; WILD TYPE;

ADENO-ASSOCIATED VIRUS; ADENO-ASSOCIATED VIRUS 2; ANIMALIA; CYTOMEGALOVIRUS; GALLUS GALLUS; PARVOVIRUS;

EID: 0036765063     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1006/mthe.2002.0683     Document Type: Article

References (18)

1. Zhou, Z. H., McCarthy, D. B., O'Connor, C. M., Reed, L. J., and Stoops, J. K. (2001). The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes. Proc. Natl. Acad. Sci. USA 98: 14802-14807.
2. Robinson, B. H. (2001). Lactic acidemia: Disorders of Pyruvate Carboxylase and Pyruvate Dehydrogenase. In The Metabolic and Molecular Bases of Inherited Disease, vol. 1 (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, Eds.), pp. 2275-2295. McGraw-Hill, New York.
3. Goudy, K., et al. (2001). Adeno-associated virus vector-mediated IL-10 gene delivery prevents type 1 diabetes in NOD mice. Proc. Natl. Acad. Sci. USA 98: 13913-13918.
4. Kaplitt, M. G., et al. (1994). Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain. Nat. Genet. 8: 148-154.
5. Mandel, R. J., Spratt, S. K., Snyder, R. O., and Leff, S. E. (1997). Midbrain injection of recombinant adeno-associated virus encoding rat glial cell line-derived neurotrophic factor protects nigral neurons in a progressive 6-hydroxydopamine-induced degeneration model of Parkinson's disease in rats. Proc. Natl. Acad. Sci. USA 94: 14083-14088.
6. McCown, T. J., Xiao, X., Li, J., Breese, G. R., and Samulski, R. J. (1996). Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector. Brain Res. 713: 99-107.
7. Song, S., et al. (2001). Stable therapeutic serum levels of human α-1 antitrypsin (AAT) after portal vein injection of recombinant adeno-associated virus (rAAV) vectors. Gene Ther. 8: 1299-1306.
8. Song, S., Laipis, P. J., Berns, K. I., and Flotte, T. R. (2001). Effect of DNA-dependent protein kinase on the molecular fate of the rAAV2 genome in skeletal muscle. Proc. Natl. Acad. Sci. USA 98: 4084-4088.
9. Song, S., et al. (1998). Sustained secretion of human α-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors. Proc. Natl. Acad. Sci. USA 95: 14384-14388.
10. Xu, L., et al. (2001). CMV-β-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1 α promoter and results in therapeutic levels of human factor X in mice. Hum. Gene Ther. 12: 563-573.
11. Donsante, A., et al. (2001). Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors. Gene Ther. 8: 1343-1346.
12. Owen, R., et al. (2000). Recombinant adeno-associated virus vector-based gene transfer for defects in oxidative metabolism. Hum. Gene Ther. 11: 2067-2078.
13. Owen, R., and Flotte, T. R. (2001). Approaches and limitations to gene therapy for mitochondrial diseases. Antioxid. Redox. Signal. 3: 451-460.
14. Morton, K. J., Beattie, P., Brown, G. K., and Mathews, P. M. (1999). Dichloroacetate stabilizes the mutant E1α subunit in pyruvate dehydrogenase deficiency. Neurology 53: 612-616.
15. Afione, S. A., Wang, J., Walsh, S., Guggino, W. B., and Flotte, T. R. (1999). Delayed expression of adeno-associated virus vector DNA. Intervirology 42: 213-220.
16. Margineantu, D., Capaldi, R. A., and Marcus, A. H. (2000). Dynamics of the mitochondrial reticulum in live cells using fourier imaging correlation spectroscopy and digital video microscopy. Biophys. J. 79: 1833-1849.
17. Johnson, M. T., et al. (2001). Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development. Mol. Genet. Metab. 74: 293-302.
18. Zolotukhin, S., et al. (1999). Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield. Gene Ther. 6: 973-985.