IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice

American Journal of Human Genetics

Volumn 85, Issue 2, 2009, Pages 296-301

  Polito, Vinicia Assunta ^a,b   Cosma, Maria Pia ^a,b  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; PARVOVIRUS VECTOR;

ADENO ASSOCIATED VIRUS; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BLOOD BRAIN BARRIER; CENTRAL NERVOUS SYSTEM DISEASE; CONTROLLED STUDY; CYTOMEGALOVIRUS; ENZYME ACTIVITY; GENE; GENE EXPRESSION; HUNTER SYNDROME; IDURONATE 2 SULFATASE GENE; IMMUNOHISTOCHEMISTRY; MOUSE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; PROTEIN TRANSPORT; TRANSGENIC MOUSE; VIRAL GENE DELIVERY SYSTEM;

ANIMALS; BLOOD-BRAIN BARRIER; BRAIN; CENTRAL NERVOUS SYSTEM; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; GENETIC VECTORS; GLYCOSAMINOGLYCANS; HUMANS; IDURONATE SULFATASE; INJECTIONS, INTRAVENOUS; LIVER; LUNG; LYSOSOMES; MICE; MICE, KNOCKOUT; MUCOPOLYSACCHARIDOSIS II; SURVIVAL ANALYSIS;

ANIMALIA; MUS;

EID: 68249116283     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.07.011     Document Type: Article

References (16)

1. Hopwood J.J., Bunge S., Morris C.P., Wilson P.J., Steglich C., Beck M., Schwinger E., and Gal A. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum. Mutat. 2 (1993) 435-442
2. Cosma M.P., Pepe S., Annunziata I., Newbold R.F., Grompe M., Parenti G., and Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113 (2003) 445-456
3. Dierks T., Schmidt B., Borissenko L.V., Peng J., Preusser A., Mariappan M., and von Figura K. Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human C(alpha)-Formylglycine Generating Enzyme. Cell 113 (2003) 435-444
4. Neufeld E.F., and Muenzer J. The mucopolysaccharidoses. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular basis of inherited disease (2001), Mc Graw-Hill, New York 3421-3452
5. Muenzer J., Lamsa J.C., Garcia A., Dacosta J., Garcia J., and Treco D.A. Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. Acta Paediatr. Suppl. 91 (2002) 98-99
6. Cardone M., Polito V.A., Pepe S., Mann L., D'Azzo A., Auricchio A., Ballabio A., and Cosma M.P. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum. Mol. Genet. 15 (2006) 1225-1236
7. Hawkins B.T., and Davis T.P. The blood-brain barrier/neurovascular unit in health and disease. Pharmacol. Rev. 57 (2005) 173-185
8. Roces D.P., Lullmann-Rauch R., Peng J., Balducci C., Andersson C., Tollersrud O., Fogh J., Orlacchio A., Beccari T., Saftig P., and von Figura K. Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study. Hum. Mol. Genet. 13 (2004) 1979-1988
9. Vogler C., Levy B., Grubb J.H., Galvin N., Tan Y., Kakkis E., Pavloff N., and Sly W.S. Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 102 (2005) 14777-14782
10. Matzner U., Lullmann-Rauch R., Stroobants S., Andersson C., Weigelt C., Eistrup C., Fogh J., D'Hooge R., and Gieselmann V. Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. Mol. Ther. 17 (2009) 600-606
11. Sferra T.J., Backstrom K., Wang C., Rennard R., Miller M., and Hu Y. Widespread correction of lysosomal storage following intrahepatic injection of a recombinant adeno-associated virus in the adult MPS VII mouse. Mol. Ther. 10 (2004) 478-491
12. Hildinger M., Auricchio A., Gao G., Wang L., Chirmule N., and Wilson J.M. Hybrid vectors based on adeno-associated virus serotypes 2 and 5 for muscle-directed gene transfer. J. Virol. 75 (2001) 6199-6203
13. Auricchio A., O'Connor E., Weiner D., Gao G.P., Hildinger M., Wang L., Calcedo R., and Wilson J.M. Noninvasive gene transfer to the lung for systemic delivery of therapeutic proteins. J. Clin. Invest. 110 (2002) 499-504
14. Foust K.D., Nurre E., Montgomery C.L., Hernandez A., Chan C.M., and Kaspar B.K. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat. Biotechnol. 27 (2009) 59-65
15. Suzuki K., Iseki E., Togo T., Yamaguchi A., Katsuse O., Katsuyama K., Kanzaki S., Shiozaki K., Kawanishi C., Yamashita S., et al. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses. Acta Neuropathol. (Berl.) 114 (2007) 481-489
16. Grubb J.H., Vogler C., Levy B., Galvin N., Tan Y., and Sly W.S. Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc. Natl. Acad. Sci. USA 105 (2008) 2616-2621