The potential action of galactose as a "chemical chaperone": Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

European Journal of Paediatric Neurology

Volumn 13, Issue 2, 2009, Pages 160-164

  Caciotti, Anna ^a   Donati, Maria Alice ^a   d'Azzo, Alessandra ^b   Salvioli, Rosa ^c   Guerrini, Renzo ^a   Zammarchi, Enrico ^a   Morrone, Amelia ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

Chemical chaperones; Galactose; GLB1; GM1 gangliosidosis

Indexed keywords

ALPHA GALACTOSIDASE; BETA GALACTOSIDASE; GALACTOSE;

ADULT; ANIMAL CELL; ARTICLE; CELL STRAIN COS1; CONCENTRATION RESPONSE; CONTROLLED STUDY; CULTURE MEDIUM; DRUG EFFICACY; DRUG MECHANISM; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; GENE MUTATION; GENETIC TRANSFECTION; GM1 GANGLIOSIDOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; NONHUMAN; PRIORITY JOURNAL;

ALPHA-GALACTOSIDASE; ANIMALS; BETA-GALACTOSIDASE; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; FIBROBLASTS; GALACTOSE; GANGLIOSIDOSIS, GM1; HETEROZYGOTE; HUMANS; MOLECULAR CHAPERONES; MUTATION; TRANSFECTION;

EID: 60749131382     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.03.004     Document Type: Article

References (24)

1. Suzuki Y., Oshima A., and Namba E. ß-galactosidase deficiency (ß-galactosidosis) GM1-gangliosidosis and Morquio B disease. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill Publishing Co, New York 3775-3809
2. Wenger D.A., Coppola S., and Liu S.L. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60 (2003) 322-328
3. Platt F.M., Neises G.R., Karlsson G.B., Dwek R.A., and Butters T.D. N-Butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem 269 (1994) 27108-27114
4. Suzuki Y. Beta-galactosidase deficiency: an approach to chaperone therapy. J Inherit Metab Dis 29 (2006) 471-476
5. Platt F.M., Jeyakumar M., Andersson U., Priestman D.A., Dwek R.A., Butters T.D., et al. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis 24 (2001) 275-290
6. Tominaga L., Ogawa Y., Taniguchi M., Ohno K., Matsuda J., Oshima A., et al. Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain Dev 23 (2001) 284-287
7. McCormack P.L., and Goa K.L. Miglustat. Drugs 63 (2003) 2427-2434
8. Aerts J.M., Hollack C.E., Boot R.G., Groener J.E., and Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 29 (2006) 449-456
9. Pastores G.M., and Barnett N.L. Current and emerging therapies for the lysosomal storage disorders. Expert Opin Emerg Drugs 10 (2005) 891-902
10. Matsuda J., Suzuki O., Oshima A., Yamamoto Y., Noguchi A., Takimoto K., et al. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A 100 (2003) 15912-15917
11. Iwasaki H., Watanabe H., Iida M., Ogawa S., Tabe M., Higaki K., et al. Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev 28 (2006) 482-486
12. Fan J.Q., Ishii S., Asano N., and Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 5 (1999) 112-115
13. Asano N., Ishii S., Kizu H., Ikeda K., Yasuda K., Kato A., et al. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochem 267 (2000) 4179-4186
14. Okumiya T., Ishii S., Takenaka T., Kase R., Kamei S., Sakuraba H., et al. Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. Biochem Biophys Res Commun 214 (1995) 1219-1224
15. Frustaci A., Chimenti C., Ricci R., Natale L., Russo M.A., Pieroni M., et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345 (2001) 25-32
16. Caciotti A., Donati M.A., Bardelli T., d'Azzo A., Massai G., Luciani L., et al. Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol 167 (2005) 1689-1698
17. Morrone A., Bardelli T., Donati M.A., Giorgi M., Di Rocco M., Gatti R., et al. Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat 15 (2000) 354-366
18. Caciotti A., Bardelli T., Cunningham J., d'Azzo A., Zammarchi E., and Morrone A. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. Hum Genet 113 (2003) 44-50
19. Galjaard H. Genetic metabolic diseases early diagnosis and prenatal analysis (1980), Elsevier/North Holland Biochemical Press, Amsterdam
20. M1-gangliosidosis patients. Hum Mutat 25 (2005) 285-292
21. Platt F.M., and Butters T.D. New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem Pharm 56 (1998) 421-430
22. Sawkar A.R., Cheng W.C., Beutler E., Wong C.H., Balch W.E., and Kelly J.W. Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A 99 (2002) 15428-15433
23. Gjedde A., and Crone C. Biochemical modulation of blood-brain barrier permeability. Acta Neuropathol Suppl 8 (1983) 59-74
24. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 121 (2006) 1-22