Long-term correction of very long-chain acyl-CoA dehydrogenase deficiency in mice using AAV9 gene therapy

Molecular Therapy

Volumn 20, Issue 6, 2012, Pages 1131-1138

  Keeler, Allison M ^a   Conlon, Thomas ^b   Walter, Glenn ^b   Zeng, Huadong ^b   Shaffer, Scott A ^a   Dungtao, Fu ^b   Erger, Kirsten ^b   Cossette, Travis ^b   Tang, Qiushi ^a   Mueller, Christian ^a   Flotte, Terence R ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; ADENOVIRUS VECTOR; GENOMIC DNA; LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DRUG ACCUMULATION; DRUG DISTRIBUTION; DRUG MECHANISM; ENZYME DEFICIENCY; ENZYME LOCALIZATION; EX VIVO STUDY; FATTY ACID OXIDATION; LIPID STORAGE; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; TANDEM MASS SPECTROMETRY; THERMOREGULATION; TISSUE DISTRIBUTION; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY; VIRAL GENE DELIVERY SYSTEM; VIRUS RECOMBINANT;

ADENO-ASSOCIATED VIRUS 9; ANIMALIA; MUS;

EID: 84861877814     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2012.39     Document Type: Article

References (34)

1. Spiekerkoetter, U, Sun, B, Zytkovicz, T, Wanders, R, Strauss, AW and Wendel, U (2003). MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143: 335-342. (Pubitemid 37188318)
2. Arnold, GL, Van Hove, J, Freedenberg, D, Strauss, A, Longo, N, Burton, B et al. (2009). A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96: 85-90.
3. Vianey-Saban, C, Divry, P, Brivet, M, Nada, M, Zabot, MT, Mathieu, M et al. (1998). Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43-62. (Pubitemid 28048705)
4. Smelt, AH, Poorthuis, BJ, Onkenhout, W, Scholte, HR, Andresen, BS, van Duinen, SG et al. (1998). Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43: 540-544. (Pubitemid 28231734)
5. Gregersen, N, Andresen, BS, Corydon, MJ, Corydon, TJ, Olsen, RK, Bolund, L et al. (2001). Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat 18: 169-189. (Pubitemid 32807897)
6. Online Medelian Inheritance in Man, O.J.H.U., Baltimore, MD. MIM Number: 201475: 27 April 2011.
7. Pons, R, Cavadini, P, Baratta, S, Invernizzi, F, Lamantea, E, Garavaglia, B et al. (2000). Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol 22: 98-105. (Pubitemid 30109328)
8. Tucci, S, Flögel, U, Sturm, M, Borsch, E and Spiekerkoetter, U (2011). Disrupted fat distribution and composition due to medium-chain triglycerides in mice with a ß-oxidation defect. Am J Clin Nutr 94: 439-449.
9. Conlon, TJ, Walter, G, Owen, R, Cossette, T, Erger, K, Gutierrez, G et al. (2006). Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector. Hum Gene Ther 17: 71-80. (Pubitemid 43100516)
10. Beattie, SG, Goetzman, E, Conlon, T, Germain, S, Walter, G, Campbell-Thompson, M et al. (2008). Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD. Hum Gene Ther 19: 579-588. (Pubitemid 351913527)
11. Beattie, SG, Goetzman, E, Tang, Q, Conlon, T, Campbell-Thompson, M, Matern, D et al. (2008). Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice. J Gene Med 10: 1113-1123.
12. Inagaki, K, Fuess, S, Storm, TA, Gibson, GA, Mctiernan, 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. (Pubitemid 43899488)
13. 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. (Pubitemid 351737072)
14. Merritt, JL 2nd, Nguyen, T, Daniels, J, Matern, D and Schowalter, DB (2009). Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy. Mol Ther 17: 425-429.
15. Bonnet, D, Martin, D, Pascale De Lonlay, Villain, E, Jouvet, P, Rabier, D et al. (1999). Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100: 2248-2253.
16. Mathur, A, Sims, HF, Gopalakrishnan, D, Gibson, B, Rinaldo, P, Vockley, J et al. (1999). Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343. (Pubitemid 29129919)
17. Laforêt, P, Acquaviva-Bourdain, C, Rigal, O, Brivet, M, Penisson-Besnier, I, Chabrol, B et al. (2009). Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 19: 324-329.
18. Spiekerkoetter, U, Tokunaga, C, Wendel, U, Mayatepek, E, Exil, V, Duran, M et al. (2004). Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest 34: 191-196. (Pubitemid 38406633)
19. Xu, L, Daly, T, Gao, C, Flotte, TR, Song, S, Byrne, BJ et al. (2001). CMV-beta-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1 alpha promoter and results in therapeutic levels of human factor X in mice. Hum Gene Ther 12: 563-573. (Pubitemid 32511077)
20. Conlon, TJ, Cossette, T, Erger, K, Choi, YK, Clarke, T, Scott-Jorgensen, M et al. (2005). Efficient hepatic delivery and expression from a recombinant adeno-associated virus 8 pseudotyped alpha1-antitrypsin vector. Mol Ther 12: 867-875. (Pubitemid 41614482)
21. Mizukami, H, Mimuro, J, Ogura, T, Okada, T, Urabe, M, Kume, A et al. (2006). Adipose tissue as a novel target for in vivo gene transfer by adeno-associated viral vectors. Hum Gene Ther 17: 921-928. (Pubitemid 46076752)
22. Zhang, FL, Jia, SQ, Zheng, SP and Ding, W (2011). Celastrol enhances AAV1-mediated gene expression in mice adipose tissues. Gene Ther 18: 128-134.
23. Cannon, B and Nedergaard, J (2004). Brown adipose tissue: function and physiological significance. Physiol Rev 84: 277-359. (Pubitemid 38054374)
24. Skilling, H, Coen, PM, Fairfull, L, Ferrell, RE, Goodpaster, BH, Vockley, J et al. (2010). Brown adipose tissue function in short-chain acyl-CoA dehydrogenase deficient mice. Biochem Biophys Res Commun 400: 318-322.
25. Exil, VJ, Gardner, CD, Rottman, JN, Sims, H, Bartelds, B, Khuchua, Z et al. (2006). Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol 290: H1289-H1297.
26. Behrend, AM, Harding, CO, Shoemaker, JD, Matern, D, Sahn, DJ, Elliot, DL et al. (2012). Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation. Mol Genet Metab 105: 110-115.
27. Primassin, S, Tucci, S, Herebian, D, Seibt, A, Hoffmann, L, ter Veld, F et al. (2010). Pre-exercise medium-chain triglyceride application prevents acylcarnitine accumulation in skeletal muscle from very-long-chain acyl-CoA-dehydrogenase-deficient mice. J Inherit Metab Dis 33: 237-246.
28. Wilcken, B (2010). Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 33: 501-506.
29. Primassin, S, Tucci, S and Spiekerkoetter, U (2011). Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice. Mol Genet Metab 104: 546-551.
30. Yusupov, R, Finegold, DN, Naylor, EW, Sahai, I, Waisbren, S and Levy, HL (2010). Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab 101: 33-39.
31. Gao, G, Alvira, MR, Somanathan, S, Lu, Y, Vandenberghe, LH, Rux, JJ et al. (2003). Adeno-associated viruses undergo substantial evolution in primates during natural infections. Proc Natl Acad Sci USA 100: 6081-6086. (Pubitemid 36576934)
32. Cideciyan, AV, Aleman, TS, Boye, SL, Schwartz, SB, Kaushal, S, Roman, AJ et al. (2008). Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 105: 15112-15117.
33. Zytkovicz, TH, Fitzgerald, EF, Marsden, D, Larson, CA, Shih, VE, Johnson, DM et al. (2001). Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945-1955. (Pubitemid 33010710)
34. Spiekerkoetter, U, Tokunaga, C, Wendel, U, Mayatepek, E, Ijlst, L, Vaz, FM et al. (2005). Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res 57: 760-764. (Pubitemid 40727102)