Extended normal life after AAVrh10-mediated gene therapy in the mouse model of krabbe disease

Molecular Therapy

Volumn 20, Issue 11, 2012, Pages 2031-2042

  Rafi, Mohammad A ^a   Rao, Han Zhi ^a   Luzi, Paola ^a   Curtis, Mark T ^a   Wenger, David A ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSYLCERAMIDASE; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BODY WEIGHT; CEREBELLUM; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GAIT; GLOBOID CELL LEUKODYSTROPHY; GRIP STRENGTH; LIFESPAN; MALE; MATING; MOTOR COORDINATION; MOTOR PERFORMANCE; MOUSE; NEWBORN; NONHUMAN; PARENTAL BEHAVIOR; PHYSICAL ACTIVITY; SCIATIC NERVE; SPINAL CORD; VIRAL GENE THERAPY; VIRUS CAPSID; VIRUS GENOME; VIRUS RECOMBINANT;

ADENO-ASSOCIATED VIRUS; MUS;

EID: 84869093015     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2012.153     Document Type: Article

References (50)

1. Wenger, DA (1997). Krabbe disease (globoid cell leukodystrophy). In: Rosenberg, RNP, DiMauro S, and Barchi RL (eds). The Molecular and Genetic Basis of Neurological Disease. 2nd ed. Butterworth-Heinemann: Boston, pp 421-431.
2. Wenger, DA, Suzuki, K, Suzuki, Y and Suzuki, K (2001). Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe disease). In: Scriver, CR, Sly WS, Valle, D, Childs B, Kinzler, KW and Vogelstein B (ed). The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill: New York, pp 3669-3687.
3. Suzuki, K (1998). Twenty five years of the "psychosine hypothesis": A personal perspective of its history and present status. Neurochem Res 23: 251-259.
4. Zaka, M and Wenger, DA (2004). Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. Neurosci Lett 358: 205-209. (Pubitemid 38368205)
5. Escolar, ML, Poe, MD, Provenzale, JM, Richards, KC, Allison, J, Wood, S et al. (2005). Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med 352: 2069-2081. (Pubitemid 40664308)
6. Shapiro, EG, Lockman, LA, Balthazor, M and Krivit, W (1995). Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 18: 413-429.
7. Suzuki, K and Suzuki, K (1995). The twitcher mouse: A model for Krabbe disease and for experimental therapies. Brain Pathol 5: 249-258.
8. Wenger, DA (2000). Murine, canine and non-human primate models of Krabbe disease. Mol Med Today 6: 449-451.
9. Hoogerbrugge, PM, Suzuki, K, Suzuki, K, Poorthuis, BJ, Kobayashi, T, Wagemaker, G et al. (1988). Donor-Derived cells in the central nervous system of twitcher mice after bone marrow transplantation. Science 239: 1035-1038. (Pubitemid 18094174)
10. Luzi, P, Rafi, MA, Zaka, M, Rao, HZ, Curtis, M, Vanier, MT et al. (2005). Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Mol Genet Metab 86: 150-159. (Pubitemid 41412171)
11. Neri, M, Ricca, A, di Girolamo, I, Alcala'-Franco, B, Cavazzin, C, Orlacchio, A et al. (2011). Neural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy. Stem Cells 29: 1559-1571.
12. Ripoll, CB, Flaat, M, Klopf-Eiermann, J, Fisher-Perkins, JM, Trygg, CB, Scruggs, BA et al. (2011). Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe's disease. Stem Cells 29: 67-77.
13. Taylor, RM, Lee, JP, Palacino, JJ, Bower, KA, Li, J, Vanier, MT et al. (2006). Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-Autonomous disorders: Evidence from a mouse model of Krabbe leukodystrophy. J Neurochem 97: 1585-1599. (Pubitemid 43873654)
14. Taylor, RM and Snyder, EY (1997). Widespread engraftment of neural progenitor and stem-like cells throughout the mouse brain. Transplant Proc 29: 845-847. (Pubitemid 27125986)
15. Galbiati, F, Givogri, MI, Cantuti, L, Rosas, AL, Cao, H, van Breemen, R et al. (2009). Combined hematopoietic and lentiviral gene-Transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. J Neurosci Res 87: 1748-1759.
16. Lin, D, Donsante, A, Macauley, S, Levy, B, Vogler, C and Sands, MS (2007). Central nervous system-Directed AAV2/5-mediated gene therapy synergizes with bone marrow transplantation in the murine model of globoid-cell leukodystrophy. Mol Ther 15: 44-52. (Pubitemid 46043648)
17. Lin, D, Fantz, CR, Levy, B, Rafi, MA, Vogler, C, Wenger, DA et al. (2005). AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. Mol Ther 12: 422-430. (Pubitemid 41150127)
18. Rafi, MA, Zhi Rao, H, Passini, MA, Curtis, M, Vanier, MT, Zaka, M et al. (2005). AAVmediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Mol Ther 11: 734-744. (Pubitemid 40567978)
19. Shen, JS, Meng, XL, Yokoo, T, Sakurai, K, Watabe, K, Ohashi, T et al. (2005). Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: Implication for gene therapy to Krabbe disease. J Gene Med 7: 540-551. (Pubitemid 40744520)
20. Biswas, S and LeVine, SM (2002). Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. Pediatr Res 51: 40-47. (Pubitemid 34008208)
21. Strazza, M, Luddi, A, Carbone, M, Rafi, MA, Costantino-Ceccarini, E and Wenger, DA (2009). Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells. Mol Genet Metab 97: 27-34.
22. Biswas, S and LeVine, SM (2002). Substrate-reduction therapy enhances the benefits of bone marrow transplantation in young mice with globoid cell leukodystrophy. Pediatr Res 51: 40-47. (Pubitemid 34008208)
23. Lee, WC, Courtenay, A, Troendle, FJ, Stallings-Mann, ML, Dickey, CA, DeLucia, MW et al. (2005). Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy. FASEB J 19: 1549-1551. (Pubitemid 41279027)
24. Kagitani-Shimono, K, Mohri, I, Fujitani, Y, Suzuki, K, Ozono, K, Urade, Y et al. (2005). Anti-inflammatory therapy by ibudilast, a phosphodiesterase inhibitor, in demyelination of twitcher, a genetic demyelination model. J Neuroinflammation 2: 10.
25. Lee, WC, Kang, D, Causevic, E, Herdt, AR, Eckman, EA and Eckman, CB (2010). Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. J Neurosci 30: 5489-5497.
26. Luzi, P, Abraham, RM, Rafi, MA, Curtis, M, Hooper, DC and Wenger, DA (2009). Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. Brain Res 1300: 146-158.
27. Duque, S, Joussemet, B, Riviere, C, Marais, T, Dubreil, L, Douar, AM et al. (2009). Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. Mol Ther 17: 1187-1196.
28. Foust, KD, Wang, X, McGovern, VL, Braun, L, Bevan, AK, Haidet, AM et al. (2010). Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28: 271-274.
29. Gray, SJ, Blake, BL, Criswell, HE, Nicolson, SC, Samulski, RJ, McCown, TJ et al. (2010). Directed evolution of a novel adeno-Associated virus (AAV) vector that crosses the seizure-compromised blood-brain barrier (BBB). Mol Ther 18: 570-578.
30. Hester, ME, Foust, KD, Kaspar, RW and Kaspar, BK (2009). AAV as a gene transfer vector for the treatment of neurological disorders: Novel treatment thoughts for ALS. Curr Gene Ther 9: 428-433.
31. Pardridge, WM (2010). Preparation of Trojan horse liposomes (THLs) for gene transfer across the blood-brain barrier. Cold Spring Harb Protoc 2010: Pdb.prot5407.
32. Foust, KD, Nurre, E, Montgomery, CL, Hernandez, A, Chan, CM and Kaspar, BK (2009). Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol 27: 59-65.
33. Hu, C, Busuttil, RW and Lipshutz, GS (2010). RH10 provides superior transgene expression in mice when compared with natural AAV serotypes for neonatal gene therapy. J Gene Med 12: 766-778.
34. Zhang, H, Yang, B, Mu, X, Ahmed, SS, Su, Q, He, R et al. (2011). Several rAAV vectors efficiently cross the blood-brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system. Mol Ther 19: 1440-1448.
35. Sondhi, D, Hackett, NR, Peterson, DA, Stratton, J, Baad, M, Travis, KM et al. (2007). Enhanced survival of the LINCL mouse following CLN2 gene transfer using the rh.10 rhesus macaque-Derived adeno-Associated virus vector. Mol Ther 15: 481-491.
36. Hurlbut, GD, Ziegler, RJ, Nietupski, JB, Foley, JW, Woodworth, LA, Meyers, E et al. (2010). Preexisting immunity and low expression in primates highlight translational challenges for liver-Directed AAV8-mediated gene therapy. Mol Ther 18: 1983-1994.
37. Li, H, Lasaro, MO, Jia, B, Lin, SW, Haut, LH, High, KA et al. (2011). Capsid-specific T-cell responses to natural infections with adeno-Associated viruses in humans differ from those of nonhuman primates. Mol Ther 19: 2021-2030.
38. Nietupski, JB, Hurlbut, GD, Ziegler, RJ, Chu, Q, Hodges, BL, Ashe, KM et al. (2011). Systemic administration of AAV8-A-galactosidase A induces humoral tolerance in nonhuman primates despite low hepatic expression. Mol Ther 19: 1999-2011.
39. Hu, H, Gomero, E, Bonten, E, Gray, JT, Allay, J, Wu, Y et al. (2012). Preclinical dose-finding study with a liver-Tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. Mol Ther 20: 267-274.
40. Wang, L, Bell, P, Lin, J, Calcedo, R, Tarantal, AF and Wilson, JM (2011). AAV8-mediated hepatic gene transfer in infant rhesus monkeys (Macaca mulatta). Mol Ther 19: 2012-2020.
41. Sidrauski, C, Chapman, R and Walter, P (1998). The unfolded protein response: An intracellular signalling pathway with many surprising features. Trends Cell Biol 8: 245-249. (Pubitemid 28243207)
42. Zhang, K and Kaufman, RJ (2008). From endoplasmic-reticulum stress to the inflammatory response. Nature 454: 455-462.
43. Luddi, A, Strazza, M, Carbone, M, Moretti, E and Costantino-Ceccarini, E (2005). Galactosylceramidase deficiency causes sperm abnormalities in the mouse model of globoid cell leukodystrophy. Exp Cell Res 304: 59-68. (Pubitemid 40222077)
44. Hildinger, M, Auricchio, A, Gao, G, Wang, L, Chirmule, N and Wilson, JM (2001). Hybrid vectors based on adeno-Associated virus serotypes 2 and 5 for muscle-Directed gene transfer. J Virol 75: 6199-6203. (Pubitemid 32553151)
45. Xiao, W, Chirmule, N, Berta, SC, McCullough, B, Gao, G and Wilson, JM (1999). Gene therapy vectors based on adeno-Associated virus type 1. J Virol 73: 3994-4003. (Pubitemid 29189844)
46. Passini, MA and Wolfe, JH (2001). 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: 12382-12392. (Pubitemid 33115910)
47. Snyder, EY, Taylor, RM and Wolfe, JH (1995). Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature 374: 367-370.
48. Lowry, OH, Rosebrough, NJ, Farr, AL and Randall, RJ (1951). Protein measurement with the Folin phenol reagent. J Biol Chem 193: 265-275.
49. Wenger, DA and Williams, CA (1991) In: Hommes, FA (ed). Techniques in Diagnostic Human Biochemical Genetics. Wiley-Liss: New York. pp 587-617.
50. Dolcetta, D, Perani, L, Givogri, MI, Galbiati, F, Orlacchio, A, Martino, S et al. (2004). Analysis of galactocerebrosidase activity in the mouse brain by a new histological staining method. J Neurosci Res 77: 462-464. (Pubitemid 38970989)