An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models

Molecular Therapy Methods and Clinical Development

Volumn 1, Issue , 2014, Pages 14044-

  Gérard, Catherine ^a   Xiao, Xiao ^b   Filali, Mohammed ^a   Coulombe, Zoé ^a   Arsenault, Marie ^c   Couet, Jacques ^c   Li, Juan ^b   Drolet, Marie Claude ^c   Chapdelaine, Pierre ^a   Chikh, Amina ^a   Tremblay, Jacques P ^a  

^a University Laval   (Canada)

^b UNC Hamner Institute for Drug Safety Sciences   (United States)

^c LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADENO ASSOCIATED VIRUS VECTOR; CRE RECOMBINASE; CREATINE KINASE MM; FRATAXIN; NEURON SPECIFIC ENOLASE;

ADENO ASSOCIATED VIRUS 9; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN; CONTROLLED STUDY; ECHOCARDIOGRAPHY; EMBRYO DEVELOPMENT; ENZYME LINKED IMMUNOSORBENT ASSAY; FRIEDREICH ATAXIA; GENE INACTIVATION; HEART; HEART FUNCTION; KIDNEY; KNOCKOUT MOUSE; LIVER; MOUSE; MUSCLE; NONHUMAN; PRIORITY JOURNAL; SINGLE DRUG DOSE; VIRAL GENE DELIVERY SYSTEM;

EID: 84977640297     PISSN: None     EISSN: 23290501     Source Type: Journal    
DOI: 10.1038/mtm.2014.44     Document Type: Article

References (32)

1. 1 Campuzano, V, Montermini, L, Moltò, MD, Pianese, L, Cossée, M, Cavalcanti, F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996), 1423–1427.
2. 2 Pandolfo, M, Iron and Friedreich ataxia. J Neural Transm Suppl 70 (2006), 143–146.
3. 3 Pandolfo, M, Friedreich ataxia. Handb Clin Neurol 103 (2012), 275–294.
4. 4 Becker, E, Richardson, DR, Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia. Int J Biochem Cell Biol 33 (2001), 1–10.
5. 5 Wallis, J, Shaw, J, Wilkes, D, Farrall, M, Williamson, R, Chamberlain, S, et al. Prenatal diagnosis of Friedreich ataxia. Am J Med Genet 34 (1989), 458–461.
6. 6 Rötig, A, de Lonlay, P, Chretien, D, Foury, F, Koenig, M, Sidi, D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17 (1997), 215–217.
7. 7 Babady, NE, Carelle, N, Wells, RD, Rouault, TA, Hirano, M, Lynch, DR, et al. Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab 92 (2007), 23–35.
8. 8 Cooper, JM, Schapira, AH, Friedreich's Ataxia: disease mechanisms, antioxidant and Coenzyme Q10 therapy. Biofactors 18 (2003), 163–171.
9. 9 Harding, AE, Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104 (1981), 589–620.
10. 10 Lynch, DR, Farmer, JM, Balcer, LJ, Wilson, RB, Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 59 (2002), 743–747.
11. 11 Pandolfo, M, Molecular pathogenesis of Friedreich ataxia. Arch Neurol 56 (1999), 1201–1208.
12. 12 Singh, G, Binstadt, BA, Black, DF, Corr, AP, Rummans, TA, Electroconvulsive therapy and Friedreich's ataxia. J ECT 17 (2001), 53–54.
13. 13 Puccio, H, Simon, D, Cossée, M, Criqui-Filipe, P, Tiziano, F, Melki, J, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27 (2001), 181–186.
14. 14 Perdomini, M, Belbellaa, B, Monassier, L, Reutenauer, L, Messaddeq, N, Cartier, N, et al. Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia. Nat Med 20 (2014), 542–547.
15. 15 Vyas, PM, Tomamichel, WJ, Pride, PM, Babbey, CM, Wang, Q, Mercier, J, et al. A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model. Hum Mol Genet 21 (2012), 1230–1247.
16. 16 Piras, BA, O'Connor, DM, French, BA, Systemic delivery of shRNA by AAV9 provides highly efficient knockdown of ubiquitously expressed GFP in mouse heart, but not liver. PLoS ONE, 8, 2013, e75894.
17. 17 Bish, LT, Morine, K, Sleeper, MM, Sanmiguel, J, Wu, D, Gao, G, et al. Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat. Hum Gene Ther 19 (2008), 1359–1368.
18. 18 Weidemann, F, Eyskens, B, Mertens, L, Di Salvo, G, Strotmann, J, Buyse, G, et al. Quantification of regional right and left ventricular function by ultrasonic strain rate and strain indexes in Friedreich's ataxia. Am J Cardiol 91 (2003), 622–626.
19. 19 Huang, ML, Sivagurunathan, S, Ting, S, Jansson, PJ, Austin, CJ, Kelly, M, et al. Molecular and functional alterations in a mouse cardiac model of Friedreich ataxia: activation of the integrated stress response, eIF2a phosphorylation, and the induction of downstream targets. Am J Pathol 183 (2013), 745–757.
20. 20 Perdomini, M, Hick, A, Puccio, H, Pook, MA, Animal and cellular models of Friedreich ataxia. J Neurochem 126:suppl 1 (2013), 65–79.
21. 21 Aschauer, DF, Kreuz, S, Rumpel, S, Analysis of transduction efficiency, tropism and axonal transport of AAV serotypes 1, 2, 5, 6, 8 and 9 in the mouse brain. PLoS ONE, 8, 2013, e76310.
22. 22 Ohshima, S, Shin, JH, Yuasa, K, Nishiyama, A, Kira, J, Okada, T, et al. Transduction efficiency and immune response associated with the administration of AAV8 vector into dog skeletal muscle. Mol Ther 17 (2009), 73–80.
23. 23 Hauck, B, Murphy, SL, Smith, PH, Qu, G, Liu, X, Zelenaia, O, et al. Undetectable transcription of cap in a clinical AAV vector: implications for preformed capsid in immune responses. Mol Ther 17 (2009), 144–152.
24. 24 Herzog, RW, Immune responses to AAV capsid: are mice not humans after all?. Mol Ther 15 (2007), 649–650.
25. 25 Manno, CS, Pierce, GF, Arruda, VR, Glader, B, Ragni, M, Rasko, JJ, et al. Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 12 (2006), 342–347.
26. 26 Nathwani, AC, Tuddenham, EG, Rangarajan, S, Rosales, C, McIntosh, J, Linch, DC, et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 365 (2011), 2357–2365.
27. 27 Rabinowitz, JE, Rolling, F, Li, C, Conrath, H, Xiao, W, Xiao, X, et al. 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 (2002), 791–801.
28. 28 Wang, Z, Ma, HI, Li, J, Sun, L, Zhang, J, Xiao, X, Rapid and highly efficient transduction by double-stranded adeno-associated virus vectors in vitro and in vivo. Gene Ther 10 (2003), 2105–2111.
29. 29 Xiao, X, Li, J, Samulski, RJ, Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus. J Virol 72 (1998), 2224–2232.
30. 30 Wang, Z, Zhu, T, Rehman, KK, Bertera, S, Zhang, J, Chen, C, et al. Widespread and stable pancreatic gene transfer by adeno-associated virus vectors via different routes. Diabetes 55 (2006), 875–884.
31. 31 Drolet, MC, Roussel, E, Deshaies, Y, Couet, J, Arsenault, M, A high fat/high carbohydrate diet induces aortic valve disease in C57BL/6J mice. J Am Coll Cardiol 47 (2006), 850–855.
32. 32 Plante, E, Lachance, D, Beaudoin, J, Champetier, S, Roussel, E, Arsenault, M, et al. Comparative study of vasodilators in an animal model of chronic volume overload caused by severe aortic regurgitation. Circ Heart Fail 2 (2009), 25–32.