Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease

Molecular Brain Research

Volumn 135, Issue 1-2, 2005, Pages 112-121

  McPhee, S W J ^a,b   Francis, J ^a,b   Janson, C G ^a,c   Serikawa, T ^d   Hyland, K ^e   Ong, E O ^f   Raghavan, S S ^f   Freese, A ^g   Leone, P ^a,c  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

^c Department of Anesthesiology   (United States)

^d KYOTO UNIVERSITY   (Japan)

^e BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^f NEW YORK UNIVERSITY   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Aspartoacylase; Canavan; Gene therapy; Leukodystrophy; NAA; Tremor rat

Indexed keywords

ASPARTOACYLASE; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CANAVAN DISEASE; CONTROLLED STUDY; COORDINATION; DRUG ACTIVITY; DRUG EFFECT; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; GENE TARGETING; GENE TRANSFER; MALE; MOTOR PERFORMANCE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RAT; SENSORIMOTOR FUNCTION; TREMOR; VIRUS RECOMBINANT;

ADENO-ASSOCIATED VIRUS 2; ANIMALIA;

EID: 18044384641     PISSN: 0169328X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molbrainres.2004.12.007     Document Type: Article

References (45)

1. B.T. Adornato, J.S. O'Brien, P.W. Lampert, T.F. Roe, and H.B. Neustein Cerebral spongy degeneration of infancy. A biochemical and ultrastructural study of affected twins Neurology 22 1972 202 210
2. T. Akimitsu, K. Kurisu, R. Hanaya, K. Iida, Y. Kiura, K. Arita, H. Matsubayashi, K. Ishihara, K. Kitada, T. Serikawa, and M. Sasa Epileptic seizures induced by N-acetyl-l-aspartate in rats: in vivo and in vitro studies Brain Res. 861 2000 143 150
3. Y. Asano, A. Okaniwa, T. Serikawa, and J. Yamada Delayed postnatal behavioral development in spontaneously epileptic rats and tremor rats, and poor operant performance in spontaneously epileptic rats Jikken Dobutsu 39 1990 69 74
4. V. Barash, D. Flhor, B. Morag, A. Boneh, O.N. Elpeleg, and C. Gilon A radiometric assay for aspartoacylase activity in human fibroblasts: application for the diagnosis of Canavan's disease Clin. Chim. Acta 201 1991 175 181
5. J.S. Bartlett, R.J. Samulski, and T.J. McCown Selective and rapid uptake of adeno-associated virus type 2 in brain Hum. Gene Ther. 9 1998 1181 1186
6. M.H. Baslow Evidence supporting a role for N-acetyl-l-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review Neurochem. Int. 40 2002 295 300
7. M.H. Baslow, and T.R. Resnik Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms J. Mol. Neurosci. 9 1997 109 125
8. G. Chakraborty, P. Mekala, D. Yahya, G. Wu, and R.W. Ledeen Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase J. Neurochem. 78 2001 736 745
9. H. Chen, D.M. McCarty, A.T. Bruce, and K. Suzuki Oligodendrocyte-specific gene expression in mouse brain: use of a myelin-forming cell type-specific promoter in an adeno-associated virus J. Neurosci. Res. 55 1999 504 513
10. K.R. Clark, X. Liu, J.P. McGrath, and P.R. Johnson Highly purified recombinant adeno-associated virus vectors are biologically active and free of detectable helper and wild-type viruses Hum. Gene Ther. 10 1999 1031 1039
11. F.B. Goldstein The enzymatic synthesis of N-acetyl-l-aspartic acid by subcellular preparations of rat brain J. Biol. Chem. 244 1969 4257 4260
12. D. Grimm, A. Kern, K. Rittner, and J.A. Kleinschmidt Novel tools for production and purification of recombinant adenoassociated virus vectors Hum. Gene Ther. 9 1998 2745 2760
13. C. Janson, S. McPhee, L. Bilaniuk, J. Haselgrove, M. Testaiuti, A. Freese, D.J. Wang, D. Shera, P. Hurh, J. Rupin, E. Saslow, O. Goldfarb, M. Goldberg, G. Larijani, W. Sharrar, L. Liouterman, A. Camp, E. Kolodny, J. Samulski, and P. Leone Clinical protocol. Gene therapy of Canavan disease: AAV-2 vector for neurosurgical delivery of aspartoacylase gene (ASPA) to the human brain Hum. Gene Ther. 13 2002 1391 1412
14. M.G. Kaplitt, P. Leone, R.J. Samulski, X. Xiao, D.W. Pfaff, K.L. O'Malley, and M.J. During Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain Nat. Genet. 8 1994 148 154
15. B.K. Kaspar, D. Erickson, D. Schaffer, L. Hinh, F.H. Gage, and D.A. Peterson Targeted retrograde gene delivery for neuronal protection Mol. Ther. 5 2002 50 56
16. B.K. Kaspar, J. Llado, N. Sherkat, J.D. Rothstein, and F.H. Gage Retrograde viral delivery of IGF-1 prolongs survival in a mouse ALS model Science 301 2003 839 842
17. R. Kaul, G.P. Gao, K. Balamurugan, and R. Matalon Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease Nat. Genet. 5 1993 118 123
18. K. Kitada, T. Akimitsu, Y. Shigematsu, A. Kondo, T. Maihara, N. Yokoi, T. Kuramoto, M. Sasa, and T. Serikawa Accumulation of N-acetyl-l-aspartate in the brain of the tremor rat, a mutant exhibiting absence-like seizure and spongiform degeneration in the central nervous system J. Neurochem. 74 2000 2512 2519
19. R.L. Klein, E.M. Meyer, A.L. Peel, S. Zolotukhin, C. Meyers, N. Muzyczka, and M.A. King Neuron-specific transduction in the rat septohippocampal or nigrostriatal pathway by recombinant adeno-associated virus vectors Exp. Neurol. 150 1998 183 194
20. P. Leone, C.G. Janson, S.J. McPhee, and M.J. During Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease Curr. Opin. Mol. Ther. 1 1999 487 492
21. P. Leone, C.G. Janson, L. Bilaniuk, Z. Wang, F. Sorgi, L. Huang, R. Matalon, R. Kaul, Z. Zeng, A. Freese, S.W. McPhee, E. Mee, M.J. During, and L. Bilianuk Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease Ann. Neurol. 48 2000 27 38
22. P.R. Lowenstein Immunology of viral-vector-mediated gene transfer into the brain: an evolutionary and developmental perspective Trends Immunol. 23 2002 23 30
23. C.N. Madhavarao, C. Chinopoulos, K. Chandrasekaran, and M.A. Namboodiri Characterization of the N-acetylaspartate biosynthetic enzyme from rat brain J. Neurochem. 86 2003 824 835
24. R.J. Mandel, S.K. Spratt, R.O. Snyder, and S.E. Leff 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. U. S. A. 94 1997 14083 14088
25. R. Matalon, R. Kaul, J. Casanova, K. Michals, A. Johnson, I. Rapin, P. Gashkoff, and M. Deanching SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease J. Inherit. Metab. Dis. 12 Suppl 2 1989 329 331
26. R. Matalon, K. Michals, D. Sebesta, M. Deanching, P. Gashkoff, and J. Casanova Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease Am. J. Med. Genet. 29 1988 463 471
27. R. Matalon, P.L. Rady, K.A. Platt, H.B. Skinner, M.J. Quast, G.A. Campbell, K. Matalon, J.D. Ceci, S.K. Tyring, M. Nehls, S. Surendran, J. Wei, E.L. Ezell, and S. Szucs Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system J. Gene Med. 2 2000 165 175
28. R. Matalon, S. Surendran, P.L. Rady, M.J. Quast, G.A. Campbell, K.M. Matalon, S.K. Tyring, J. Wei, C.S. Peden, E.L. Ezell, N. Muzyczka, and R.J. Mandel Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for Canavan disease Mol. Ther. 7 2003 580 587
29. T.J. McCown, X. Xiao, J. Li, G.R. Breese, and R.J. Samulski Differential and persistent expression patterns of CNS gene transfer by an adeno-associated virus (AAV) vector Brain Res. 713 1996 99 107
30. S.J. McPhee, S. Fenu, R. Xu, M. Mastakov, X. Fan, A. Freese, M.J. During, and P. Leone In vivo analysis of tyrosine hydroxylase expression cassettes in the 6-OHDA Parkinsonian rat model using AAV vectors: a repeated injection paradigm American Society of Gene Therapy vol. 1 1999 51a (Washington, D.C.)
31. S.W.J. McPhee, R. Horst, C.G. Janson, X.Y. Jiao, K. Hyland, E. Kolodny, M.J. During, and P. Leone Towards Phenotypic Correction in a Leukodystrophy Model Using AAV Gene Transfer 2001 Society for Neuroscience Sand Diego, CA
32. V. Mehta, and M.A. Namboodiri N-acetylaspartate as an acetyl source in the nervous system Brain Res. Mol. Brain Res. 31 1995 151 157
33. A. Moreno, B.D. Ross, and S. Bluml Direct determination of the N-acetyl-l-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion J. Neurochem. 77 2001 347 350
34. J. Park, G.J. Murray, A. Limaye, J.M. Quirk, M.P. Gelderman, R.O. Brady, and P. Qasba Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer Proc. Natl. Acad. Sci. U. S. A. 100 2003 3450 3454
35. T.B. Patel, and J.B. Clark Synthesis of N-acetyl-l-aspartate by rat brain mitochondria and its involvement in mitochondrial/cytosolic carbon transport J. Biochem. 184 1979 539 546
36. A.L. Peel, S. Zolotukhin, G.W. Schrimsher, N. Muzyczka, and P.J. Reier Efficient transduction of green fluorescent protein in spinal cord neurons using adeno-associated virus vectors containing cell type-specific promoters Gene Ther. 4 1997 16 24
37. T. Seki, H. Matsubayashi, T. Amano, K. Kitada, T. Serikawa, N. Sakai, and M. Sasa Adenoviral gene transfer of aspartoacylase into the tremor rat, a genetic model of epilepsy, as a trial of gene therapy for inherited epileptic disorder Neurosci. Lett. 328 2002 249 252
38. A.F. Skorupa, K.J. Fisher, J.M. Wilson, M.K. Parente, and J.H. Wolfe Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice Exp. Neurol. 160 1999 17 27
39. R.E. Steinpreis, K.A. Anders, E.M. Branda, and C.K. Kruschel The effects of atypical antipsychotics and phencyclidine (PCP) on rotorod performance Pharmacol. Biochem. Behav. 63 1999 387 394
40. H.H. Tallan, S. Moore, and W.H. Stein N-Acetyl-l-aspartic acid in brain J. Biol. Chem. 219 1956 257 264
41. B. Tavazzi, R. Vagnozzi, D. Di Pierro, A.M. Amorini, G. Fazzina, S. Signoretti, A. Marmarou, I. Caruso, and G. Lazzarino Ion-pairing high-performance liquid chromatographic method for the detection of N-acetylaspartate and N-acetylglutamate in cerebral tissue extracts Anal. Biochem. 277 2000 104 108
42. D.L. Taylor, S.E. Davies, T.P. Obrenovitch, J. Urenjak, D.A. Richards, J.B. Clark, and L. Symon Extracellular N-acetylaspartate in the rat brain: in vivo determination of basal levels and changes evoked by high K+ J. Neurochem. 62 1994 2349 2355
43. D.L. Taylor, S.E. Davies, T.P. Obrenovitch, M.H. Doheny, P.N. Patsalos, J.B. Clark, and L. Symon Investigation into the role of N-acetylaspartate in cerebral osmoregulation J. Neurochem. 65 1995 275 281
44. L. Von Bogaert, and I. Bertrand Spongy Degeneration of the Brain in Infancy 1967 Charles C Thomas Amsterdam
45. R. Xu, C.G. Janson, M. Mastakov, P. Lawlor, D. Young, A. Mouravlev, H. Fitzsimons, K.L. Choi, H. Ma, M. Dragunow, P. Leone, Q. Chen, B. Dicker, and M.J. During Quantitative comparison of expression with adeno-associated virus (AAV-2) brain-specific gene cassettes Gene Ther. 8 2001 1323 1332