AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A disease

Molecular Therapy

Volumn 11, Issue 5, 2005, Pages 754-762

  Passini, Marco A ^a   Macauley, Shannon L ^a   Huff, Michael R ^a   Taksir, Tatyana V ^a   Bu, Jie ^a   Wu, I Huan ^a   Piepenhagen, Peter A ^a   Dodge, James C ^a   Shihabuddin, Lamya S ^a   O'Riordan, Catherine R ^a   Schuchman, Edward H ^b   Stewart, Gregory R ^a  

^a GENZYME CORPORATION   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

AAV; Acid sphingomyelinase; Adeno associated virus; ASMKO; Axonal transport; Cholesterol; CNS; Gene therapy; Lysosomal storage disease; Neurodegeneration

Indexed keywords

CAPSID PROTEIN; RECOMBINANT DNA; SPHINGOMYELIN PHOSPHODIESTERASE;

ADENO ASSOCIATED VIRUS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DISEASE MODEL; GENE THERAPY; HIPPOCAMPUS; KNOCKOUT MOUSE; LYSOSOME; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PATHOLOGY; PROTEIN EXPRESSION; RETROGRADE NERVE FIBER TRANSPORT; REVERSAL REACTION; SEROTYPE; TARGET ORGAN; VIRAL GENE DELIVERY SYSTEM; VIRUS EXPRESSION;

ANIMALS; BRAIN; CHOLESTEROL; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; GENE THERAPY; GENETIC VECTORS; HUMANS; LYSOSOMES; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; NIEMANN-PICK DISEASES; RNA, MESSENGER; SPHINGOMYELIN PHOSPHODIESTERASE;

ADENO-ASSOCIATED VIRUS;

EID: 20244383300     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2005.01.011     Document Type: Article

References (48)

1. E.H. Schuchman and R.J. Desnick Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies In: C.R. Scriver A.L. Beaudet W.S. Sly D. Valle (Eds.) The Metabolic and Molecular Basis of Inherited Disease 8th ed 2001 McGraw-Hill New York 3589-3610
2. A.R. Leventhal W. Chen A.R. Tall and I. Tabas Acid sphingomyelinase deficient macrophages have defective cholesterol trafficking and efflux J. Biol. Chem. 276 2001 44976-44983
3. N.W. Barton et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease N. Engl. J. Med. 324 1991 1464-1470
4. E. Beutler et al. Enzyme replacement therapy for Gaucher disease Blood 78 1991 1183-1189
5. G. Hsich M. Sena-Esteves and X.O. Breakefield Critical issues in gene therapy for neurologic disease Hum. Gene Ther. 13 2002 579-604
6. E.M. Kaye and M. Sena-Esteves Gene therapy for the central nervous system in the lysosomal storage disorders Neurol. Clin. North Am. 20 2002 879-901
7. S.R. Miranda et al. Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology FASEB J. 14 2000 1988-1995
8. B.L. Davidson and X.O. Breakefield Viral vectors for gene delivery to the nervous system Nat. Neurosci. Rev. 4 2003 353-364
9. 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
10. M.G. Kaplitt et al. Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain Nat. Genet. 8 1994 148-154
11. M.A. Passini E.B. Lee G.G. Heuer and J.H. Wolfe Distribution of a lysosomal enzyme in the adult brain by axonal transport and by cells of the rostral migratory stream J. Neurosci. 22 2002 6437-6446
12. K. Horinouchi et al. Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease Nat. Genet. 10 1995 288-293
13. H.K. Jin J.E. Carter G.W. Huntley and E.H. Schuchman Intracerebral transplantation of mesenchymal stem cells into acid sphingomyelinase-deficient mice delays the onset of neurological abnormalities and extends their life span J. Clin. Invest. 109 2002 1183-1191
14. B. Otterbach and W. Stoffel Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease) Cell 81 1995 1053-1061
15. D.G. Amaral and M.P. Witter Hippocampal formation In: G. Paxinos (Eds.) The Rat Nervous System 2nd ed. 1995 Academic Press San Diego 443-494
16. R.L. Jakab and C. Leranth Septum In: G. Paxinos (Eds.) The Rat Nervous System 2nd ed. 1995 Academic Press San Diego 405-422
17. J. Sarna S.R. Miranda E.H. Schuchman and R. Hawkes Patterned cerebellar Purkinje cell death in a transgenic mouse model of Niemann Pick type A/B disease Eur. J. Neurosci. 13 2001 1-9
18. P.J. Meikle J.J. Hopwood A.E. Clague and W.F. Carey Prevalence of lysosomal storage disorders JAMA 20 1999 249-254
19. E.F. Neufeld Lysosomal storage diseases Annu. Rev. Biochem. 60 1991 257-280
20. S.U. Walkley Cellular pathology of lysosomal storage disorders Brain Pathol. 8 1998 175-193
21. A.I. Brooks et al. Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors Proc. Natl. Acad. Sci. USA 30 2002 6216-6221
22. 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
23. P. Leinekugel S. Michel E. Conzelmann and K. Sandhoff Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease Hum. Genet. 88 1992 513-523
24. S.R. Miranda S. Erlich V.L. Friedrich S. Gatt and E.H. Schuchman Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease Gene Ther. 7 2000 1768-1776
25. P. Moullier D. Bohl J.M. Heard and O. Danos Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts Nat. Genet. 4 1993 154-159
26. E.F. Neufeld and J.C. Fratantoni Inborn errors of mucopolysaccharide metabolism Science 169 1970 141-146
27. L.H. O'Connor et al. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function J. Clin. Invest. 101 1998 1394-1400
28. C.J. Ross M. Ralph and P.L. Chang Somatic gene therapy for a neurodegenerative disease using microencapsulated recombinant cells Exp. Neurol. 166 2000 276-286
29. G.N. Sando and E.F. Neufeld Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts Cell 12 1977 619-627
30. R.M. Taylor and J.H. Wolfe Decreased lysosomal storage in the adult MPS VII mouse brain in the vicinity of grafts of retroviral vector-corrected fibroblasts secreting high levels of beta-glucuronidase Nat. Med. 3 1997 771-774
31. J.H. Wolfe et al. Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer Nature 360 1992 749-753
32. J.P. Slotte Cholesterol-sphingomyelin interactions in cells - effects on lipid metabolism Subcell. Biochem. 28 1997 277-293
33. M.B. Viana et al. Very low levels of high density lipoprotein cholesterol in four sibs of a family with non neuropathic Niemann-Pick disease and sea-blue histiocytosis J. Med. Genet. 27 1990 499-504
34. N.M. Boulis N.E. Willmarth D.K. Song E.L. Feldman and M.J. Imperiale Intraneural colchicine inhibition of adenoviral and adeno-associated viral vector remote spinal cord gene delivery Neurosurgery 52 2003 381-387
35. 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
36. 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
37. 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
38. R. Matalon et al. Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for Canavan disease Mol. Ther. 7 2003 580-587
39. A.K. Hennig et al. Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice J. Neurosci. 23 2003 3302-3307
40. N.H. Chamberlin B. Du S. de Lacalle and C.B. Saper Recombinant adeno-associated virus vector: Use for transgene expression and anterograde tract tracing in the CNS Brain Res. 793 1998 169-175
41. R.L. Klein R.J. Mandel and N. Muzyczka Adeno-associated virus vector mediated gene transfer to somatic cells in the central nervous system Adv. Virus Res. 55 2000 507-543
42. X. Xiao J. Li and R.J. Samulski Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus J. Virol. 72 1998 2224-2232
43. C.R. O'Riordan A.L. Lachapelle K.A. Vincent and S.C. Wadsworth Scaleable chromatographic purification process for recombinant adeno-associated virus J. Gene Med. 2 2000 444-454
44. K.R. Clark L. Xinglou 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
45. J.H. Wolfe and M.S. Sands Murine mucopolysaccharidosis type VII: A model for somatic gene therapy of the central nervous system In: R.R. Lowenstein L.W. Enquist (Eds.) Protocols for Gene Transfer in Neuroscience: Towards Gene Therapy of Neurological Disorders 1996 Wiley London 263-274
46. M.A. Passini D.J. Watson C.H. Vite D.J. Landsburg A.L. Feigenbaum and J.H. Wolfe Intraventricular brain injection of adeno-associated virus type 1 in neonatal mice results in complementary patterns of neuronal transduction to AAV2 and total long-term correction of storage lesions in the brains of β-glucuronidase-deficient mice J. Virol. 77 2003 7034-7040
47. L.K. Barthel and P.A. Raymond In situ hybridization studies of retinal neurons Methods Enzymol. 316 2000 579-590
48. M.A. Passini and J.H. Wolfe Widespread gene delivery and structure specific patterns of expression in the brain after intraventricular injections of neonatal mice with an adeno associated virus vector J. Virol. 75 2001 12382-12392