AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2

Molecular Therapy

Volumn 12, Issue 3, 2005, Pages 422-430

  Lin, Darshong ^a,b   Fantz, Corinne R ^a,e   Levy, Beth ^c   Rafi, Mohammad A ^d   Vogler, Carole ^c   Wenger, David A ^d   Sands, Mark S ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Behavioral phenotyping; Galactosylceramidase; Globoid cell leukodystrophy; Krabbe disease; Lysosomal storage disease; Recombinant adeno associated virus

Indexed keywords

BRAIN ENZYME; CAPSID PROTEIN; GALACTOSYLCERAMIDASE; PARVOVIRUS VECTOR;

ANALYSIS OF VARIANCE; ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DEMYELINATING DISEASE; DISEASE COURSE; DISEASE SEVERITY; ENZYME HISTOCHEMISTRY; GENE EXPRESSION REGULATION; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; LIFE EXPECTANCY; LIFESPAN; LYSOSOME STORAGE DISEASE; MORTALITY; MOUSE; MOUSE STRAIN; NONHUMAN; SEROTYPE; STATISTICAL SIGNIFICANCE; VIRUS GENOME; VIRUS RECOMBINANT;

ANIMALS; BEHAVIOR, ANIMAL; BODY WEIGHT; BRAIN; CENTRAL NERVOUS SYSTEM DISEASES; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GALACTOSYLCERAMIDASE; GENE THERAPY; GENE TRANSFER TECHNIQUES; GENETIC VECTORS; GENOTYPE; GREEN FLUORESCENT PROTEINS; HOMOZYGOTE; LEUKODYSTROPHY, GLOBOID CELL; MICE; MUTATION; NEURONS; PHENOTYPE; POLYMERASE CHAIN REACTION; TIME FACTORS;

ADENO-ASSOCIATED VIRUS; ANIMALIA; MIRIDAE; MURINAE;

EID: 23844451244     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2005.04.019     Document Type: Article

References (46)

1. D.A. Wenger S. Coppola and S.L. Liu Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy Genet. Med. 4 2002 412-419
2. K. Suzuki and Y. Suzuki Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase Proc. Natl. Acad. Sci. USA 66 1970 302-309
3. D.A. Wenger M.A. Rafi and P. Luzi Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications Hum. Mutat. 10 1997 268-279
4. H. Igisu and K. Suzuki Progressive accumulation of toxic metabolite in a genetic leukodystrophy Science 224 1984 753-755
5. E. Haq S. Giri I. Singh and A.K. Singh Molecular mechanism of psychosine-induced cell death in human oligodendrocyte cell line J. Neurochem. 86 2003 1428-1440
6. D.A. Wenger Murine, canine and non-human primate models of Krabbe disease Mol. Med. Today 6 2000 449-451
7. K. Suzuki and K. Suzuki The twitcher mouse: A model for Krabbe disease and for experimental therapies Brain Pathol. 5 1995 249-258
8. N. Sakai et al. Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease J. Neurochem. 66 1996 1118-1124
9. K. Suzuki P.M. Hoogerbrugge B.J. Poorthuis D.W. Bekkum and K. Suzuki The twitcher mouse: Central nervous system pathology after bone marrow transplantation Lab. Invest. 58 1998 302-309
10. A.M. Yeager S. Brennan C. Tiffany H.W. Moser and G.W. Santos Prolonged survival and remyelination after hematopoietic cell transplantation in the twitcher mouse Science 225 1984 1052-1054
11. W. Krivit et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy N. Engl. J. Med. 338 1998 1119-1126
12. T. Ezoe et al Twitcher mice with only a single active galactosylceramide synthase gene exhibit clearly detectable but therapeutically minor phenotypic improvements J. Neurosci. Res. 59 2000 179-187
13. S.M. LeVine T.V. Pedchenko I.G. Bronshteyn and D.M. Pinson l-Cycloserine slows the clinical and pathological course in mice with globoid cell leukodystrophy (twitcher mice) J. Neurosci. Res. 60 2000 231-236
14. S. Biswas H. Biesiada T.D. Williams and S.M. LeVine Delayed clinical and pathological signs in twitcher (globoid cell leukodystrophy) mice on a C57BL/6 × CAST/Ei background Neurobiol. Dis. 10 2002 344-357
15. M.A. Gama et al. Sosa Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer Biochem. Biophys. Res. Commun. 218 1996 766-771
16. M.A. Rafi et al. Retroviral vector-mediated transfer of the galactocerebrosidase (GALC) cDNA leads to overexpression and transfer of GALC activity to neighboring cells Biochem. Mol. Med. 58 1996 142-150
17. E. Torchiana et al. Retroviral-mediated transfer of the galactocerebrosidase gene in neural progenitor cells Neuroreport 9 1998 3823-3827
18. E. Costantino-Ceccarini A. Luddi M. Volterrani M. Strazza M.A. Rafi andD.A. Wenger Transduction of cultured oligodendrocytes from normal and twitcher mice by a retroviral vector containing human galactocerebrosidase (GALC) cDNA Neurochem. Res. 24 1999 287-293
19. A. Luddi et al. Retrovirus-mediated gene transfer and galactocerebrosidase uptake into twitcher glial cells results in appropriate localization and phenotype correction Neurobiol. Dis. 8 2001 600-610
20. J.S. Shen K. Watabe T. Ohashi and Y. Eto Intraventricular administration of recombinant adenovirus to neonatal twitcher mouse leads to clinicopathological improvements Gene Ther. 8 2001 1081-1087
21. L. Tenenbaum A. Chtarto E. Lehtonen T. Velu J. Brotchi and M. Levivier Recombinant AAV-mediated gene delivery to the central nervous system J. Gene Med. 6 Suppl. 1 2004 S212-S222
22. S.S. Elliger C.A. Elliger C.P. Aguilar N.R. Raju and G.L. Watson Elimination of lysosomal storage in brains of MPS VII mice treated by intrathecal administration of an adeno-associated virus vector Gene Ther. 6 1999 1175-1178
23. W.A. Frisella et al. Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII Mol. Ther. 3 2001 351-358
24. H. Fu R.J. Samulski T.J. McCown Y.J. Picornell D. Fletcher and J. Muenzer Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery Mol. Ther. 5 2002 42-49
25. A. Consiglio et al. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice Nat. Med. 7 2001 310-316
26. B.L. Davidson et al. Recombinant adeno-associated virus type 2, 4, and 5 vectors: Transduction of variant cell types and regions in the mammalian central nervous system Proc. Natl. Acad. Sci. USA 97 2000 3428-3432
27. C. Burger et al. Recombinant AAV viral vectors pseudotyped with viral capsids from serotypes 1, 2, and 5 display differential efficiency and cell tropism after delivery to different regions of the central nervous system Mol. Ther. 10 2004 302-317
28. D. Dolcetta et al. Analysis of galactocerebrosidase activity in the mouse brain by a new histological staining method J. Neurosci. Res. 77 2004 462-464
29. D.H. Watson M.A. Passini and J.H. Wolfe Transduction of the choroids plexus and ependyma in neonatal mouse brain by vesicular stomatitis virus glycoprotein-pseudotyped lentivirus and adeno-associated virus type 5 vectors Hum. Gene Ther. 16 2005 49-56
30. P. Luzi M.A. Rafi M. Zaka M. Curtis M.T. Vanier and D.A. Wenger Generation of a mouse with low galactocerebrosidase activity by gene targeting: A new model of globoid cell leukodystrophy (Krabbe disease) Mol. Genet. Metab. 73 2001 211-223
31. H. Xia Q. Mao and B.L. Davidson The HIV Tat protein transduction domain improves the biodistribution of beta-glucuronidase expressed from recombinant viral vectors Nat. Biotechnol. 19 2001 640-644
32. M. Taniike and K. Suzuki Spatio-temporal progression of demyelination in twitcher mouse: With clinico-pathological correlation Acta Neuropathol. 88 1994 228-236
33. M. Ohno A. Komiyama P.M. Martin and K. Suzuki Proliferation of microglia/ macrophages in the demyelinating CNS and PNS of twitcher mouse Brain Res. 602 1993 268-274
34. M. Itoh M. Hayashi Y. Fujioka K. Nagashima Y. Morimatsu and H. Matsuyama Immunohistological study of globoid cell leukodystrophy Brain Dev. 24 2002 284-290
35. Y.P. Wu E.J. McMahon J. Matsuda K. Suzuki G.K. Matsushima and K. Suzuki Expression of immune-related molecules is downregulated in twitcher mice following bone marrow transplantation J. Neuropathol. Exp. Neurol. 60 2001 1062-1074
36. K. Ohmi D.S. Greenberg K.S. Rajavel S. Ryazantsev H.H. Li and E.F. Neufeld Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB Proc. Natl. Acad. Sci. USA 100 2003 1902-1907
37. M. Jeyakumar et al. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis Brain 126 Pt 4 2003 974-987
38. R. Wada C.J. Tifft and R.L. Proia Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation Proc. Natl. Acad. Sci. USA 97 2000 10954-10959
39. M.S. Sands and J.E. Barker Percutaneous intravenous injection in neonatal mice Comp. Med. 50 2000 107
40. A. Salvetti et al. Factors influencing recombinant adeno-associated virus production Hum. Gene Ther. 9 1998 695-706
41. D.A. Wenger C. Williams Screening for lysosomal disorders in: F.A. Hommes eds. Techniques in Diagnostics Human Biochemical Genetics 1991 Wiley-Liss New York 587-617
42. O.H. Lowry N.J. Rosebrough A.L. Farr and R.J. Randall Protein measurement with the Folin phenol reagent J. Biol. Chem. 193 1951 265-275
43. C.E. Olmstead Neurological and neurobehavioral development of the mutant 'twitcher' mouse Behav. Brain Res. 25 1987 143-153
44. D.C. Rogers E.M. Fisher S.D. Brown J. Peters A.J. Hunter and J.E. Martin Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment Mamm. Genome 8 1997 711-713
45. K. Matsuura H. Kabuto H. Makino and N. Ogawa Pole test is a useful method for evaluating the mouse movement disorder caused by striatal dopamine depletion J. Neurosci. Methods. 25 1997 45-48
46. T. Karl R. Pabst and S. von Horsten Behavioral phenotyping of mice in pharmacological and toxicological research Exp. Toxicol. Pathol. 55 2003 69-83