Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant α-galactosidase

Journal of Human Genetics

Volumn 52, Issue 12, 2007, Pages 1018-1025

  Kawashima, Ikuo ^a,b   Watabe, Kazuhiko ^a   Tajima, Youichi ^a,b   Fukushige, Tomoko ^c   Kanzaki, Tamotsu ^c   Kanekura, Takuro ^c   Sugawara, Kanako ^d   Ohyanagi, Naho ^d   Suzuki, Toshihiro ^d   Togawa, Tadayasu ^d   Sakuraba, Hitoshi ^b,d  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c KAGOSHIMA UNIVERSITY   (Japan)

^d MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

Galactosidase; Cation independent mannose 6 phosphate receptor; Enzyme replacement therapy; Fabry disease; Globotriaosylceramide; Schwann cell

Indexed keywords

AGALSIDASE BETA; ALPHA GALACTOSIDASE; MANNOSE 6 PHOSPHATE; RECOMBINANT ENZYME; SOMATOMEDIN B RECEPTOR;

ANIMAL CELL; ARTICLE; CELL CULTURE; CELL IMMORTALIZATION; CELL STRUCTURE; CONTROLLED STUDY; DOSE RESPONSE; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME REPLACEMENT; ENZYME SUBSTRATE; FABRY DISEASE; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; MOUSE; NONHUMAN; PERIPHERAL NEUROPATHY; PROTEIN EXPRESSION; RECEPTOR DENSITY; SCHWANN CELL;

ALPHA-GALACTOSIDASE; ANIMALS; BIOLOGICAL TRANSPORT; DOSE-RESPONSE RELATIONSHIP, DRUG; FABRY DISEASE; HUMANS; MICE; MICE, INBRED C57BL; RECEPTOR, IGF TYPE 2; RECOMBINANT PROTEINS; SCHWANN CELLS;

MUS;

EID: 36448974878     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0210-x     Document Type: Article

References (20)

1. Dahms NM, Lobel P, Kornfeld S (1989) Mannose 6-phosphate receptor and lysosomal enzyme targeting. J Biol Chem 264:12115-12118
2. Desnick RJ, Ioannou YA, Eng CM (2001) α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733-3774
3. Desnick RJ, Brady RO, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338-346
4. Eng CM, Banikzzemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JT, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ (2001a) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711-722
5. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ (2001b) Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345:9-16
6. Hilz MJ, Brys M, Marthol H, Stemper B, Dütsch M (2004) Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy. Neurology 62:1066-1079
7. Kanzaki T, Yokota M, Mizuno N, Matsumoto Y, Hirabayashi Y (1989) Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet 1:875-877
8. Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcom J, Gegan L, Qiu H, Seiger K, Barngrover D, McPherson JM, Edmunds T (2003) A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13:305-313
9. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML (1981) Differential assay for lysosomal α-galactosidase in human tissues and its application to Fabry's disease. Clin Chim Acta 112:247-251
10. Oshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, Kulkarni AB (1997) α-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci USA 94:2540-2544
11. Sakuraba H, Murata-Ohsawa M, Kawashima I, Tajima Y, Kotani M, Oshima T, Chiba Y, Takashiba M, Jigami Y, Fukushige T, Kanzaki T, Itoh K (2006a) Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 51:180-188
12. Sakuraba H, Chiba Y, Kotani M, Kawashima I, Ohsawa M, Tajima Y, Takaoka Y, Jigami Y, Takahashi H, Hirai Y, Shimada T, Hashimoto Y, Ishii K, Kobayashi T, Watabe K, Fukushige T, Kanzaki T (2006b) Corrective effect on Fabry mice of yeast recombinant human α-galactosidase with N-linked sugar chains suitable for lysosomal delivery. J Hum Genet 51:341-352
13. Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, Quirk JM, Zirzow GC, Borowski M, Loveday K, Anderson T, Gillespie F, Cliver KL, Jeffries NO, Doo E, Liang TJ, Kreps C, Gunter K, Frei K, Crutchfield K, Selden RF, Brady RO (2000) Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 97:365-370
14. Schiffmann R, Rapkiewicz A, Abu-Asab M, Ries M, Askari H, Tsokos M, Quezado M (2006) Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 448:337-343
15. Tajima Y, Matsuzawa F, Aikawa S, Okumiya T, Yoshimizu M, Tsukimura T, Ikekita M, Tsujino S, Tsuji A, Edmunds T, Sakuraba H (2007) Structural and biochemical studies on Pompe disease and "pseudodeficiency of acid alpha-glucosidase". J Hum Genet Epub, PMID: 17805474
16. Tong PY, Tollefsen SE, Kornfeld S (1988) The cation-independent mannose 6-phosphate receptor binds insulin-like growth factor II. J Biol Chem 263:2585-2588
17. Watabe K, Yamada M, Kawashima T, Kim SU (1990) Transfection and stable transformation of adult mouse Schwann cells with SV-40 large T antigen. J Neuropathol Exp Neurol 49:455-467
18. Watabe K, Fukuda T, Tanaka J, Honda H, Toyohara K, Sakai O (1995) Spontaneously immortalized adult mouse Schwann cells secrete autocrine and pancrine growth-promoting activities. J Neurosci Res 41:279-290
19. Watabe K, Ida H, Uehara K, Oyanagi K, Sakamoto T, Tanaka J, Garver WS, Miyawaki S, Ohno K, Eto Y (2001) Establishment and characterization of immortalized Schwann cells from murine model of Niemann-Pick disease type C (spm/spm). J Peripher Nerv Syst 6:85-94
20. Watabe K, Sakamoto T, Kawazoe Y, Michikawa M, Miyamoto K, Yamamura T, Saya H, Araki N (2003) Tissue culture methods to study neurological disorders: establishment of immortalized Schwann cells from murine disease models. Neuropathology 23:68-78