Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile batten disease

Molecular Therapy

Volumn 15, Issue 10, 2007, Pages 1782-1788

  Cabrera Salazar, Mario A ^a   Roskelley, Eric M ^a   Bu, Jie ^a   Hodges, Bradley L ^a   Yew, Nelson ^a   Dodge, James C ^a   Shihabuddin, Lamya S ^a   Sohar, Istvan ^b   Sleat, David E ^b   Scheule, Ronald K ^a   Davidson, Beverly L ^c   Cheng, Seng H ^a   Lobel, Peter ^b   Passini, Marco A ^a  

^a GENZYME CORPORATION   (United States)

^b RUTGERS UNIVERSITY   (United States)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PARVOVIRUS VECTOR; PROTEINASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN LEVEL; CONTROLLED STUDY; DRUG EFFICACY; EARLY INTERVENTION; ENZYME ACTIVITY; HISTOPATHOLOGY; LIFESPAN; LYSOSOME STORAGE DISEASE; MALE; MOTOR PERFORMANCE; MOUSE; MOUSE MUTANT; NERVE FIBER DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS LATE INFANTILE TYPE; NONHUMAN; NUCLEOTIDE SEQUENCE; ROTAROD TEST; SURVIVAL TIME; TREATMENT PLANNING; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VIRUS RECOMBINANT; WILD TYPE;

ANIMALS; BRAIN; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; ENDOPEPTIDASES; GENE THERAPY; GENETIC VECTORS; MICE; MICE, MUTANT STRAINS; MOTOR ACTIVITY; NEURONAL CEROID-LIPOFUSCINOSES; SURVIVAL ANALYSIS;

ADENO-ASSOCIATED VIRUS; ANIMALIA; MUS;

EID: 34548759601     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/sj.mt.6300249     Document Type: Article

References (37)

1. Hofmann, SL and Peltonen, L (2001). The neuronal ceroid lipofuscinoses, In: Scriver, CR, Beaudet, AL, Sly, WS and Valle, D (eds). The metabolic and molecular basis of inherited disease, 8th edn. McGraw-Hill: New York. pp. 3877-3894.
2. Sleat DE, Donnelly, RJ, Lackland, H, Liu, CG, Sohar, I, Pullarkat, RK et al. (1997). Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277: 1802-1805.
3. Vines, D and Warburton, MJ (1998). Purification and characterization of a tripeptidyl aminopeptidase I from rat spleen. Biochim Biophys Acta 1384: 233-242.
4. Ezaki, J, Wolfe, LS and Kominami, E (1995). Defect of proteolysis of mitochondrial ATP synthase subunit C in neuronal ceroid lipofuscinosis. Gerontology 41 (suppl. 2): 259-269.
5. Palmer, DN, Feamley, IM, Medd, SM, Walker, JE, Martinus, RD, Bayliss, SL et al. (1989). Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses. Adv Exp Med Biol 266: 211-222.
6. Sleat, DE, Wiseman, JA, El-Banna, M, Kim, KH, Mao, Q, Price, S et al. (2004). A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. J Neurosci 24: 9117-9126.
7. Mandel, RJ, Manfredsson, FP, Foust, KD, Rising, A, Reimsnider, S, Nash, K et al. (2006). Recombinant adeno-associated viral vectors as therapeutic agents to treat neurological disorders. Mol Ther 13 463-483.
8. Passini, MA, Dodge, JC, Bu, J, Yang, W, Zhao, Q, Sondhi, D et al. (2006). Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J Neurosci 26: 1334-1342.
9. Sondhi, D, Hackett NR, Peterson, DA, Stratton, J, Baad, M, Travis, KM et al. (2007). Enhanced survival of the UNCL mouse following CLN2 gene transfer using the rh. 10 rhesus macaque-derived adeno-associated virus vector. Mol Ther 15: 481-491.
10. Sands, MS and Davidson, BL (2006). Gene therapy for lysosomal storage diseases. Mol Ther 13: 939-849.
11. Passini, MA, Watson, DJ, Vite, CH, Landsburg, DJ, Feigenbaum, AL and Wolfe, JH (2003). Intraventricular brain injection of AAV1 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: 7034-7040.
12. Burger, C, Gorbatyuk, OS, Velardo, MJ, Peden, CS, Williams, P, Zolotukhin, S et al. (2004). 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: 302-317.
13. Vite, CH, McGowan, JC, Niogi, SN, Passini, MA, Drobatz, KJ, Haskins, ME et al. (2005). Effective gene therapy for an inherited diffuse CNS disease in a large animal model. Ann Neurol 57: 355-364.
14. Dodge, JC, Clarke, J, Song, A, Bu, J, Yang, W, Taksir, TV et al. (2005). Intracerebellar injection of different AAV serotype vectors encoding human ASM corrects neuropathology and motor deficits in a mouse model of Niemann-Pick A disease. Proc Natl Acad Sci USA 102: 17822-17827.
15. Rafi, MA, Zhi Rao, H, Passini, MA, Curtis, M, Vanier, MT, Zaka, M et al. (2005). AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of glabold cell leukodystrophy. Mol Ther 11: 734-744.
16. Broekman, ML, Baek, RC, Comer, LA, Fernandez, JL, Seyfried, TN and Sena-Esteves, M (2007). Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated vinus-mediated gene delivery. Mol Ther 15: 30-37.
17. Kurai, T, Hisayasu, S, Kitagawa, R, Migita, M, Suzuki, H, Hirai, Y et al. (2007). AAV1 mediated co-expression of formylglycine-generating enzyme and arylsulfatase A efficiently corrects sulfatide storage in a mouse model of metachromatic leukodystrophy. Mol Ther 15: 38-43.
18. Guyot, MC, Hantraye, P, Dolan, R, Palfi, S, Maziere, M and Brouillet, E (1997). Quantifiable bradykinesia, gait abnormalities and Huntington's disease-like striatal lesions in rats chronically treated with 3-nitropionic acid. Neuroscience 79: 45-56.
19. Ryu, JK, Kim, J, Cho, SJ, Hatori, K, Nagai, A, Choi, HB et al. (2004). Proactive transplantation of human neural stem cells prevents degeneration of striatal neurons in a rat model of Huntington disease. Neurobiol Dis 16: 68-77.
20. Gasbarri, A, Pompili, A, Pacitti, C and Cicirata, F (2003). Comparative effects of lesions to the ponto-cerebellar and olivo-cerebellar pathways on motor and spatial learning in the rat. Neuroscience 116: 1131-1140.
21. Consiglio, A, Quattrini, A, Martino, S, Bensadoun, JC, Dolcetta, D, Trojani, A et al. (2001). In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice. Nat Med 7: 310-316.
22. Sevin, C, Benraiss, A, Van Dam, D, Bonnin, D, Nagels, G, Verot L et al. (2006). Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. Hum Mol Genet 15: 53-64.
23. Sevin, C, Verot L, Benraiss, A, Van Dam, D, Bonnin, D, Nagels, G et al. (2007). Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. Gene Ther 14: 405-414.
24. Waddington, SN, Kennea, NL, Buckley, SM, Gregory, LG, Themis, M and Coutelle, C (2004). Fetal and neonatal gene therapy: Benefits and pitfalls. Gen Ther 11 (suppl. 1): S92-S97.
25. Daly, TM, Ohlemiller, KK, Roberts, MS, Vogler, CA and Sands, MS (2001). Prevention of systemic clinical disease in MPS VII mice following AAV-mediated neonatal gene. transfer. Gene Ther 8: 1291-1298.
26. Frisella, WA, O'Connor, LH, Vogler, CA, Roberts, M, Walkley, S, Levy, B et al. (2001). Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. Mol Ther 3: 351-358.
27. Hartung, SD, Frandsen, JL, Pan, D, Koniar, BL, Graupman, P, Gunther, R et al. (2004). Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. Mol Ther 9: 866-875.
28. Griffey, M, Bible, E, Vogler, C, Levy, B, Gupta, P, Cooper, J et al. (2004). Adeno-associated virus 2-mediated gene therapy decreases autofluorescent storage material and increases brain mass in a murine model of infantile-neuronal ceroid lipofuscinosis. Neurobiol Dis 16: 360-369.
29. Griffey, MA, Wozniak, D, Wong, M, Bible, E, Johnson, K, Rothman, SM et al. (2006). CNS-directed AAV2-mediated gene therapy ameliorates functional deficits in a murine model of Infantile neuronal ceroid lipofuscinosis. Mol Ther 13: 538-547.
30. Golan, H and Huleihel, M (2006). The effect of prenatal hypoxia on brain development: Short- and long-term consequences demonstrated in rodent models. Dev Sci 9: 338-349.
31. Hodges, BI, Taylor, KM, Joseph, MF, Bourgeois, SA and Scheule, RK (2004). Long-term transgene expression from plasmid DNA gene therapy vectors is negatively affected by CpG dinucleotides. Mol Ther 10: 269-278.
32. O'Riordan, CR, Lachapelle, AL, Vincent, KA and Wadsworth, SC (2000). Scaleable chromatographic purification process for recombinant adeno-associated virus (rAAV). J Gene Med 2: 444-454.
33. Sohar, I, Lin, L and Lobel, P (2000). Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: Comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays. Clin Chem 46: 1005-1008.
34. Lin, L, Sohar, I, Lackland, H and Lobel, P (2001). The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. J Biol Chem 276: 2249-2255.
35. Haskell, RE, Hughes, SM, Chiorini, JA, Alisky, JM and Davidson, BL (2003). Viral-mediated delivery of the late-infantile neuronal ceroid lipofuscinosis gene, TPP-1 to the mouse central nervous system. Gene Ther 10, 34-42.
36. DeOlmos, JS and Ingram, WR (1971). An improved cupric-silver method for impregnation of axonal and terminal degeneration. Brain Res 33 523-529.
37. Switzer, RC (2000). Application of silver degeneration stains for neurotoxicity testing. Toxicol Pathol 28: 70-83.