Involvement of retinal neurons and pigment epithelial cells in a murine model of Sandhoff disease

Ophthalmic Research

Volumn 40, Issue 5, 2008, Pages 241-248

  Sango, Kazunori ^a   Yamanaka, Shoji ^b   Ajiki, Kyoko ^a   Arai, Nobutaka ^a   Takano, Masahiko ^c  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Animal model; Electron microscopy; GM2 gangliosidosis; Immunohistochemistry; Retina

Indexed keywords

AGGLUTININ; CONCANAVALIN A; GANGLIOSIDE GM2; GLYCOLIPID; WHEAT GERM AGGLUTININ;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELIAC GANGLION; CELL VACUOLE; CYTOPLASM; ELECTRON MICROSCOPY; HISTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LECTIN HISTOCHEMISTRY; MICROSCOPY; MOUSE; NONHUMAN; PHOTORECEPTOR CELL; PIGMENT CELL; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA; RETINA NERVE CELL; SANDHOFF DISEASE;

ANIMALS; DISEASE MODELS, ANIMAL; G(M2) GANGLIOSIDE; IMMUNOENZYME TECHNIQUES; MICE; MICROSCOPY, IMMUNOELECTRON; NEURONS, AFFERENT; PIGMENT EPITHELIUM OF EYE; RETINA; RETINAL GANGLION CELLS; SANDHOFF DISEASE;

EID: 50049107436     PISSN: 00303747     EISSN: None     Source Type: Journal    
DOI: 10.1159/000127831     Document Type: Article

References (33)

1. M2 gangliosidoses and the elucidation of the β-hexosaminidase system; in Desnick RJ, Kaback MM (eds): Tay-Sachs Disease. Advances in Genetics. San Diego, Academic Press, 2001, vol 44, pp 67-91.
2. M2 gangliosidoses; in Scriver CR, Beaudet AL, Sly WS (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 2001, pp 3827-3876.
3. Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M, Suzuki K, Proia RL: Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci USA 1994;91:9975-9979.
4. Miklyaeva EI, Dong W, Bureau A, Fattahie R, Xu Y, Su M, Fick GH, Huang J-Q, Igdoura S, Hanai N, Gravel RA: Late onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Res 2004;1001:37-50.
5. Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL: Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 1995;11:170-176.
6. Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth JD, Trasler JM, Gravel RA: Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 1996;5:1-14.
7. Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM: Effective gene therapy in an authentic model of Tay-Sachsrelated diseases. Proc Natl Acad Sci USA 2006;103:10373-10378.
8. Lee JP, Jeyakumar M, Gonzalez R, Takahashi H, Lee PJ, Baek RC, Clark D, Rose H, Fu G, Clarke J, McKercher S, Meerloo J, Muller FJ, Park KI, Butters TD, Dwek RA, Schwartz P, Tong G, Wenger D, Lipton SA, Seyfried TN, Platt FM, Snyder EY: Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. Nat Med 2007;13:439-447.
9. Wada R, Tifft CJ, Proia RL: Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci USA 2000;97:10954-10959.
10. Wu Y, Proia RL: Deletion of macrophage-inflammatory protein 1α retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci USA 2004;101:8425-8430.
11. M2 gangliosidosis. J Clin Invest 2004;113:200-208.
12. M2 gangliosidosis type 2). Histopathology and ultrastructure of the eye. Arch Ophthalmol 1980;98:1089-1097.
13. Duke-Elder S, Dobree JH: Amaurotic family idiocy; in Duke-Elder S (ed): Diseases of the Retina. System of Ophthalmology. London, Kimpton, 1967, vol 10, pp 462-483.
14. Kivlin JD, Sanborn GE, Myers GG: The cherry-red spot in Tay-Sachs and other storage diseases. Ann Neurol 1985;17:356-360.
15. Sango K, Takano M, Ajiki K, Tokashiki A, Arai N, Kawano H, Horie H, Yamanaka S: Impaired neurite outgrowth in the retina of a murine model of Sandhoff disease. Invest Ophthalmol Vis Sci 2005;46:3420-3425.
16. Rapaport DH, Stone J: The area centralis of the retina in the cat and other mammals: focal point for function and development of the visual system. Neuroscience 1984;11:289-301.
17. Sango K, Yamanaka S, Ajiki K, Tokashiki A, Watabe K: Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease. Neuropathol Appl Neurobiol 2002;28:23-34.
18. Kotani M, Ozawa H, Kawashima I, Ando S, Tai T: Generation of one set of monoclonal antibodies specific for a-pathway ganglioseries gangliosides. Biochim Biophys Acta 1992;1117:97-103.
19. Sango K, Oohira A, Ajiki K, Tokashiki A, Horie M, Kawano H: Phosphacan and neurocan are repulsive substrata for adhesion and neurite extension of adult rat dorsal root ganglion neurons in vitro. Exp Neurol 2003;182:1-11.
20. Conyers SM, Kidwell DA: Chromogenic substrates for horseradish peroxidase. Anal Biochem 1991;192:207-211.
21. Nagashima K, Kikuchi F, Suzuki Y, Abe T: Retinal amacrine cell involvement in Tay-Sachs disease. Acta Neuropathol 1981;53:333-336.
22. Stramm L, Haskins M, Desnick RJ, Aguirre G: Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis. Part 6. Invest Ophthalmol Vis Sci 1985;26:182-192.
23. Li T, Davidson BL: Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer. Proc Natl Acad Sci USA 1995;92:7700-7704.
24. Bredehorn T, Clausen M, Duncker G, Lüllmann-Rauch R: Morphological and functional changes due to drug-induced lysosomal storage of sulphated glycosaminoglycans in the rat retina. Graefes Arch Clin Exp Ophthalmol 2001;239:788-793.
25. Sango K, McDonald MP, Crawley JN, Mack ML, Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K, Suzuki K, Proia RL: Mice lacking both subunits of lysosomal β-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet 1996;14:348-352.
26. Ozawa H, Yamashita K, Sakuraba H, Itoh K, Kase R, Tai T: Generation and characterization of mouse monoclonal antibodies specific for N-linked neutral oligosaccharides of glycoproteins. Arch Biochem Biophys 1997;342:48-57.
27. Liu Y, Wada R, Kawai H, Sango K, Deng C, Tai T, McDonald MP, Araujo K, Crawley JN, Bierfreund U, Sandhoff K, Suzuki K, Proia RL: A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. J Clin Invest 1999;103:497-505.
28. Alroy J, Aadelman LS, Warren CD: Lectin histochemistry of gangliosidosis. 1. Neural tissue in four mammalian species. Acta Neuropathol 1988;76:109-114.
29. Alroy J, Adelman LS, Warren CD: Lectin histochemistry of gangliosidosis. 2. Neurovisceral tissues from patients with Sandhoff's disease. Acta Neuropathol 1988;76:359-365.
30. Cho EYP, Choi HL, Chan FL: Expression pattern of glycoconjugates in rat retina as analysed by lectin histochemistry. Histochem J 2002;34:589-600.
31. Palmer M, Green WR, Maumenee IH, Valle DL, Singer HS, Morton SJ, Moser HW: Niemann-Pick disease - type C. Ocular histopathologic and electron microscopic studies. Arch Ophthalmol 1985;103:817-822.
32. Goebel HH, Shimokawa K, Argyrakis A, Pilz H: The ultrastructure of the retina in adult metachromatic leukodystrophy. Am J Ophthalmol 1978;85:841-849.
33. Goebel HH, Busch-Hettwer H, Bohl J: Ultrastructural study of the retina in late infantile metachromatic leukodystrophy. Ophthalmic Res 1992;24:103-109.