Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase

APMIS

Volumn 119, Issue 8, 2011, Pages 513-521

  Chen, Agnes ^a   Vogler, Carole ^b   Mcentee, Michael ^c   Hanson, Stephen ^d   Matthew Ellinwood, N ^e   Jens, Jackie ^e   Snella, Elizabeth ^e   Passage, Merry ^a   Le, Steven ^a   Guerra, Catalina ^a   Dickson, Patricia ^a  

^a HARBOR UCLA MEDICAL CENTER   (United States)

^b St Louis School of Medicine   (United States)

^c UNIVERSITY OF TENNESSEE   (United States)

^d Veterinary Neurology Center   (United States)

^e IOWA STATE UNIVERSITY   (United States)

Author keywords

Glycosaminoglycans; Iduronidase; Intrathecal enzyme replacement therapy; Lysosomal storage disease; Mucopolysaccharidosis

Indexed keywords

GLYCOSAMINOGLYCAN; LEVO IDURONIDASE; LYSOSOME ENZYME;

ANIMAL TISSUE; ARTICLE; BASAL GANGLION; BRAIN STEM; CEREBELLUM; CONTROLLED STUDY; FEMALE; FRONTAL CORTEX; HIPPOCAMPUS; HURLER SYNDROME; LOW DRUG DOSE; LYSOSOME; MALE; NEUROANATOMY; NONHUMAN; PRIORITY JOURNAL; PURKINJE CELL; THALAMUS; TREATMENT RESPONSE;

ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; DOG DISEASES; DOGS; FEMALE; GLYCOSAMINOGLYCANS; HISTOCYTOCHEMISTRY; IDURONIDASE; INJECTIONS, SPINAL; MALE; MUCOPOLYSACCHARIDOSIS I; RECOMBINANT PROTEINS; TISSUE DISTRIBUTION;

EID: 79960205823     PISSN: 09034641     EISSN: 16000463     Source Type: Journal    
DOI: 10.1111/j.1600-0463.2011.02760.x     Document Type: Article

References (25)

1. Walkley SU. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol 2004;15:433-44.
2. Dekaban AS, Constantopoulos G. Mucopolysaccharidosis types I, II, IIIA and V. Acta Neuropathol 1977;39:1-7.
3. Zervas M, Walkley SU. Ferret pyramidal cell dendritogenesis: changes in morphology and ganglioside expression during cortical development. J Comp Neurol 1999;413:429-48.
4. Villani GRD, Gargiulo N, Faraonio R, Castaldo S, Gonzalez y Reyero E, Di Natale P. Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. J Neurosci Res 2007;85:612-22.
5. Hamano K, Hayashi M, Shioda K, Fukatsu R, Mizutani S. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta Neuropathol 2008;115:547-59.
6. Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, et al. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008;17:119-29.
7. Vedolin L, Schwartz IVD, Komlos M, Schuch A, Puga AC, Pinto LLC, et al. Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. Am J Neuroradiol 2007;28:1029-33.
8. Kakkis E, McEntee M, Vogler C, Le S, Levy B, Belichenko P, et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab 2004;83:163-74.
9. Dickson P, McEntee M, Vogler C, Le S, Levy B, Peinovich M, et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab 2007;91:61-8.
10. Shull RM, Munger RJ, Spellacy E, Hall CW, Constantopoulos G, Neufeld EF. Canine alpha-l-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol 1982;109:244-8.
11. Dierenfeld AD, McEntee MF, Vogler CA, Vite CH, Chen AH, Passage M, et al. Replacing the enzyme α-l-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. Sci Transl Med 2010;2:60-89.
12. Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996;58:156-67.
13. Belichenko PV, Dickson PI, Passage M, Jungles S, Mobley WC, Kakkis ED. Penetration, diffusion, and uptake of recombinant human α-l-iduronidase after intraventricular injection into the rat brain. Mol Genet Metab 2005;86:141-9.
14. Dickson PI, Hanson S, McEntee MF, Vite CH, Vogler CA, Mlikotic A, et al. Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. Mol Genet Metab 2010;101:115-22.
15. Shull RM, Helman RG, Spellacy E, Constantopoulos G, Munger RJ, Neufeld EF. Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol 1984;114:487-95.
16. Chung S, Ma X, Liu Y, Lee D, Tittiger M, Ponder KP. Effect of neonatal administration of a retroviral vector expressing α-l-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice. Mol Genet Metab 2007;90:181-92.
17. Levy B, Galvin N, Vogler C, Birkenmeier EH, Sly WS. Neuropathology of murine mucopolysaccharidosis type VII. Acta Neuropathol 1996;92:562-8.
18. Savas PS, Hemsley KM, Hopwood JJ. Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Mol Genet Metab 2004;82:273-85.
19. Lee WC, Tsoi YK, Troendle FJ, DeLucia MW, Ahmed Z, Dicky CA, et al. Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy. FASEB J 2007;21:2520-7.
20. Chang M, Cooper JD, Sleat DE, Cheng SH, Dodge JC, Passini MA, et al. Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis. Mol Ther 2008;16:649-56.
21. Dodge JC, Clarke J, Treleaven CM, Taksir TV, Griffiths DA, Yang W, et al. Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann-Pick A disease. Exp Neurol 2009;215:349-57.
22. Hemsley KM, Norman EJ, Crawley AC, Auclair D, King B, Fuller M, et al. Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs - a proof of principle study. Mol Genet Metab;2009;98:383-92.
23. Muñoz-Rojas MV, Costa R, Canani SF, Jardim L, Vedolin L, Kakkis E, et al. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. Am J Med Genet 2008;146A:2538-44.
24. Kachur EMD, Del Maestro RMD. Mucopolysaccharidoses and spinal cord compression: case report and review of the literature with implications of bone marrow transplantation [Report]. Neurosurgery 2000;47:223-9.
25. Fan Z, Styner M, Muenzer J, Poe M, Escolar M. Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. Am J Neuroradiol 2010;31:1319-23.