Distinct transduction profiles in the CNS via three injection routes of AAV9 and the application to generation of a neurodegenerative mouse model

Molecular Therapy Methods and Clinical Development

Volumn 1, Issue , 2014, Pages 14032-

  Huda, Fathul ^a,b   Konno, Ayumu ^a   Matsuzaki, Yasunori ^a   Goenawan, Hanna ^a,b   Miyake, Koichi ^c   Shimada, Takashi ^c   Hirai, Hirokazu ^a  

^a GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b PADJADJARAN UNIVERSITY   (Indonesia)

^c NIPPON MEDICAL SCHOOL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENO ASSOCIATED VIRUS VECTOR; ATAXIN 1; MUTANT PROTEIN; SYNAPSIN I;

ADENO ASSOCIATED VIRUS 9; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CENTRAL NERVOUS SYSTEM; CEREBELLUM; CEREBELLUM CORTEX; CONTROLLED STUDY; DRUG ADMINISTRATION ROUTE; GENE EXPRESSION; INJECTION SITE; MOUSE; NEWBORN; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN AGGREGATION; PURKINJE CELL; SPINAL CORD; SPINOCEREBELLAR DEGENERATION; TRANSGENE; VIRAL GENE DELIVERY SYSTEM;

EID: 84932614435     PISSN: None     EISSN: 23290501     Source Type: Journal    
DOI: 10.1038/mtm.2014.32     Document Type: Article

References (37)

1. 1 Cavanagh, JB, Holton, JL, Nolan, CC, Selective damage to the cerebellar vermis in chronic alcoholism: a contribution from neurotoxicology to an old problem of selective vulnerability. Neuropathol Appl Neurobiol 23 (1997), 355–363.
2. 2 Seidel, K, Siswanto, S, Brunt, ER, den Dunnen, W, Korf, HW, Rüb, U, Brain pathology of spinocerebellar ataxias. Acta Neuropathol 124 (2012), 1–21.
3. 3 Mellon, SH, Gong, W, Schonemann, MD, Endogenous and synthetic neurosteroids in treatment of Niemann-Pick Type C disease. Brain Res Rev 57 (2008), 410–420.
4. 4 Sarna, JR, Hawkes, R, Patterned Purkinje cell death in the cerebellum. Prog Neurobiol 70 (2003), 473–507.
5. 5 Hirai, H, Basic research on cerebellar gene therapy using lentiviral vectors. Cerebellum 11 (2012), 443–445.
6. 6 Torashima, T, Koyama, C, Iizuka, A, Mitsumura, K, Takayama, K, Yanagi, S, et al. Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia. EMBO Rep 9 (2008), 393–399.
7. 7 Rodriguez-Lebron, E, Denovan-Wright, EM, Nash, K, Lewin, AS, Mandel, RJ, Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice. Mol Ther 12 (2005), 618–633.
8. 8 Xia, H, Mao, Q, Eliason, SL, Harper, SQ, Martins, IH, Orr, HT, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 10 (2004), 816–820.
9. 9 Qin, Q, Inatome, R, Hotta, A, Kojima, M, Yamamura, H, Hirai, H, et al. A novel GTPase, CRAG, mediates promyelocytic leukemia protein-associated nuclear body formation and degradation of expanded polyglutamine protein. J Cell Biol 172 (2006), 497–504.
10. 10 Miller, VM, Nelson, RF, Gouvion, CM, Williams, A, Rodriguez-Lebron, E, Harper, SQ, et al. CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo. J Neurosci 25 (2005), 9152–9161.
11. 11 Lee, Y, Samaco, RC, Gatchel, JR, Thaller, C, Orr, HT, Zoghbi, HY, miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci 11 (2008), 1137–1139.
12. 12 Miyake, N, Miyake, K, Yamamoto, M, Hirai, Y, Shimada, T, Global gene transfer into the CNS across the BBB after neonatal systemic delivery of single-stranded AAV vectors. Brain Res 1389 (2011), 19–26.
13. 13 Wang, DB, Dayton, RD, Henning, PP, Cain, CD, Zhao, LR, Schrott, LM, et al. Expansive gene transfer in the rat CNS rapidly produces amyotrophic lateral sclerosis relevant sequelae when TDP-43 is overexpressed. Mol Ther 18 (2010), 2064–2074.
14. 14 McCarty, DM, Self-complementary AAV vectors; advances and applications. Mol Ther 16 (2008), 1648–1656.
15. 15 Loeb, JE, Cordier, WS, Harris, ME, Weitzman, MD, Hope, TJ, Enhanced expression of transgenes from adeno-associated virus vectors with the woodchuck hepatitis virus posttranscriptional regulatory element: implications for gene therapy. Hum Gene Ther 10 (1999), 2295–2305.
16. 16 Torashima, T, Okoyama, S, Nishizaki, T, Hirai, H, In vivo transduction of murine cerebellar Purkinje cells by HIV-derived lentiviral vectors. Brain Res 1082 (2006), 11–22.
17. 17 Neki, A, Ohishi, H, Kaneko, T, Shigemoto, R, Nakanishi, S, Mizuno, N, Metabotropic glutamate receptors mGluR2 and mGluR5 are expressed in two non-overlapping populations of Golgi cells in the rat cerebellum. Neuroscience 75 (1996), 815–826.
18. 18 Geurts, FJ, Timmermans, J, Shigemoto, R, De Schutter, E, Morphological and neurochemical differentiation of large granular layer interneurons in the adult rat cerebellum. Neuroscience 104 (2001), 499–512.
19. 19 Zu, T, Duvick, LA, Kaytor, MD, Berlinger, MS, Zoghbi, HY, Clark, HB, et al. Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci 24 (2004), 8853–8861.
20. 20 Vig, PJ, Wei, J, Shao, Q, Lopez, ME, Halperin, R, Gerber, J, Suppression of calbindin-D28k expression exacerbates SCA1 phenotype in a disease mouse model. Cerebellum 11 (2012), 718–732.
21. 21 Furrer, SA, Mohanachandran, MS, Waldherr, SM, Chang, C, Damian, VA, Sopher, BL, et al. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. J Neurosci 31 (2011), 16269–16278.
22. 22 Inagaki, K, Fuess, S, Storm, TA, Gibson, GA, Mctiernan, CF, Kay, MA, et al. Robust systemic transduction with AAV9 vectors in mice: efficient global cardiac gene transfer superior to that of AAV8. Mol Ther 14 (2006), 45–53.
23. 23 Foust, KD, Nurre, E, Montgomery, CL, Hernandez, A, Chan, CM, Kaspar, BK, Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol 27 (2009), 59–65.
24. 24 Lowenstein, PR, Crossing the rubicon. Nat Biotechnol 27 (2009), 42–44.
25. 25 Saunders, NR, Joakim Ek, C, Dziegielewska, KM, The neonatal blood-brain barrier is functionally effective, and immaturity does not explain differential targeting of AAV9. Nat Biotechnol 27 (2009), 804–805 author reply 805.
26. 26 de Almeida, LP, Ross, CA, Zala, D, Aebischer, P, Déglon, N, Lentiviral-mediated delivery of mutant huntingtin in the striatum of rats induces a selective neuropathology modulated by polyglutamine repeat size, huntingtin expression levels, and protein length. J Neurosci 22 (2002), 3473–3483.
27. 27 Alves, S, Régulier, E, Nascimento-Ferreira, I, Hassig, R, Dufour, N, Koeppen, A, et al. Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease. Hum Mol Genet 17 (2008), 2071–2083.
28. 28 Osmand, AP, Berthelier, V, Wetzel, R, Imaging polyglutamine deposits in brain tissue. Meth Enzymol 412 (2006), 106–122.
29. 29 Stevanin, G, Trottier, Y, Cancel, G, Dürr, A, David, G, Didierjean, O, et al. Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. Hum Mol Genet 5 (1996), 1887–1892.
30. 30 Hadaczek, P, Eberling, JL, Pivirotto, P, Bringas, J, Forsayeth, J, Bankiewicz, KS, Eight years of clinical improvement in MPTP-lesioned primates after gene therapy with AAV2-hAADC. Mol Ther 18 (2010), 1458–1461.
31. 31 Husain, T, Passini, MA, Parente, MK, Fraser, NW, Wolfe, JH, Long-term AAV vector gene and protein expression in mouse brain from a small pan-cellular promoter is similar to neural cell promoters. Gene Ther 16 (2009), 927–932.
32. 32 De Wit, J, Eggers, R, Evers, R, Castrén, E, Verhaagen, J, Long-term adeno-associated viral vector-mediated expression of truncated TrkB in the adult rat facial nucleus results in motor neuron degeneration. J Neurosci 26 (2006), 1516–1530.
33. 33 Matsuzaki, Y, Oue, M, Hirai, H, Generation of a neurodegenerative disease mouse model using lentiviral vectors carrying an enhanced synapsin I promoter. J Neurosci Methods 223 (2014), 133–143.
34. 34 Konno, A, Shuvaev, AN, Miyake, N, Miyake, K, Iizuka, A, Matsuura, S, et al. Mutant ataxin-3 with an abnormally expanded polyglutamine chain disrupts dendritic development and metabotropic glutamate receptor signaling in mouse cerebellar Purkinje cells. Cerebellum 13 (2014), 29–41.
35. 35 Bevan, AK, Duque, S, Foust, KD, Morales, PR, Braun, L, Schmelzer, L, et al. Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther 19 (2011), 1971–1980.
36. 36 Miyake, K, Miyake, N, Yamazaki, Y, Shimada, T, Hirai, Y, Serotype-independent method of recombinant adeno-associated virus (AAV) vector production and purification. J Nippon Med Sch 79 (2012), 394–402.
37. 37 Goenawan, H, Hirai, H, Modulation of lentiviral vector tropism in cerebellar Purkinje cells in vivo by a lysosomal cysteine protease cathepsin K. J Neurovirol 18 (2012), 521–531.