Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease

Journal of Inherited Metabolic Disease

Volumn 35, Issue 3, 2012, Pages 495-503

  Fantur, Katrin M ^a,c   Wrodnigg, Tanja M ^b   Stütz, Arnold E ^b   Pabst, Bettina M ^a   Paschke, Eduard ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b GRAZ UNIVERSITY OF TECHNOLOGY   (Austria)

^c STOCKHOLM UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALCOHOL DERIVATIVE; BETA GALACTOSIDASE; N (ALPHA,ALPHA DITRIFLUOROMETHYL)BENZYLOXYHEXYL 1,5 DIDEOXY 1,5 IMINO DEXTRO GALACTITOL; N (NONAFLUORO TERT BUTYLOXY)HEXYL 1,5 DIDEOXY 1,5 IMINO DEXTRO GALACTITOL; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DRUG EFFECT; DRUG SENSITIVITY; DRUG STRUCTURE; DRUG SYNTHESIS; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE; GENE MUTATION; GENE PRODUCT; GLB1 GENE; GM1 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; IC 50; IN VIVO STUDY; INTRACELLULAR TRANSPORT; MORQUIO SYNDROME; PROTEIN PROCESSING; PROTEIN TRANSPORT; SKIN FIBROBLAST;

ALLELES; BETA-GALACTOSIDASE; DOSE-RESPONSE RELATIONSHIP, DRUG; DRUG DESIGN; EXONS; GANGLIOSIDOSIS, GM1; GENOTYPE; HUMANS; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MODELS, CHEMICAL; MODELS, GENETIC; MOLECULAR CHAPERONES; MUCOPOLYSACCHARIDOSIS IV; MUTATION; PHENOTYPE; SUGAR ALCOHOLS;

EID: 84863310666     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9409-2     Document Type: Article

References (48)

1. Arbisser AI, Donnelly KA, Scott CI et al. (1977) Morquio-like syndrome with β-galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysaccharidosis IVB. Am J Med Genet 1:195-205
2. Asano N (2003) Glycosidase inhibitors: update and perspectives on practical use. Glycobiology 13:93R-104R (Pubitemid 37337046)
3. Bagshaw RD, Zhang S, Hinek A, Skomorowski MA, Whelan D, Clarke JT, Callahan JW (2002) Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. Biochim Biophys Acta 1588:247-253 (Pubitemid 35223469)
4. Begley DJ, Pontikis CC, Scarpa M (2008) Lysosomal storage diseases and the blood-brain barrier. Curr Pharm Des 14:1566-1580 (Pubitemid 352002984)
5. Benjamin ER, Flanagan JJ, Schilling A et al. (2009) The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 32:424-440
6. Brunetti-Pierri N, Scaglia F (2008) GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94:391-396
7. Caciotti A, Donati MA, D'Azzo A et al. (2009) The potential action of galactose as a "chemical chaperone": Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. Eur J Paediatr Neurol 13:160-164
8. Callahan JW (1999) Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim Biophys Acta 1455:85-103 (Pubitemid 29435982)
9. Fan JQ (2008) A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 389:1-11
10. Fantur K, Hofer D, Schitter G et al. (2010) DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts. Mol Genet Metab 100:262-268
11. Groebe H, Krins M, Schmidberger von Figura K et al. (1980) Morquio syndrome (mucopolysaccharidosis IVB) associated with β- galactosidase deficiency. Report of two cases. Am J Hum Genet 32:23-26
12. Higaki K, Li L, Bahrudin U et al. (2011) Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat. doi:10.1002/humu.21516
13. Hinek A (1996) Biological roles of the non-integrin elastin/laminin receptor. Biol Chem 377:471-480
14. Hofer D, Paul K, Fantur K et al. (2009) GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat 30:1214-1221
15. Hofer D, Paul K, Fantur K et al. (2010) Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. Clin Genet 78:236-246
16. Iwasaki H, Watanabe H, Iida M et al. (2006) Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev 28:482-486 (Pubitemid 44051814)
17. Kaye EM, Shalish C, Livermore J et al. (1997) Breakefield, β- galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. J Child Neurol 12:242-247 (Pubitemid 27268569)
18. Khanna R, Soska R, Lun Y et al. (2010) The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol Ther 18:23-33
19. Leinekugel P, Michel S, Conzelmann E et al. (1992) Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88:513-523
20. Li X, Turanek J, Knötigova P, Kudlackova H, Masek J, Pennington DB, Rankin SE, Knutson BL, Lehmler H-J (2008) Synthesis and biocompatibility evaluation of fluorinated, single-tailed glucopyranoside surfactants. New J Chem 32:2169-2179
21. Li X, Turanek J, Knötigova P, Kudlackova H, Masek J, Parkin S, Rankin SE, Knutson BL, Lehmler HJ (2009) Hydrophobic tail length, degree of fluorination and headgroup stereochemistry are determinants of the biocompatibility of (fluorinated) carbohydrate surfactants. Colloids Surf B Biointerfaces 73:65-74
22. Lowry OH, Rosebrough NJ, Farr AL et al. (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265-275
23. Matalon R, Arbogast B, Justice P et al. (1974) Morquio's syndrome. Deficiency of a chondroitin sulfate N-acetylhexosamine sulfate sulfatase. Biochem Biophys Res Commun 61:759-765
24. Matsuda J, Suzuki O, Oshima A et al. (2003) Chemical chaperone therapy for brain pathology in G(M1) -gangliosidosis. Proc Natl Acad Sci USA 100:15912-15917 (Pubitemid 38021089)
25. Mourreau H, Galjart NJ, Willemsen R et al. (1992) Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum. J Biol Chem 267:17949-17956
26. Nishimoto J, Nanba E, Inui K et al. (1991) GM1-Gangliosidosis (Genetic β-galactosidase Deficiency): Identification of Four Mutations in Different Clinical Phenotypes among Japanese Patients. Am J Hum Genet 49:566-574 (Pubitemid 21891701)
27. O'Brien JS (1989) β-galactosidase deficiency (GM1-gangliosidosis, galactosialidosis, and Morquio syndrome type B) ; ganglioside sialidase deficiency (mucolipidosis IV) . In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic Basis of Inherited Disease, 6th edn. McGraw-Hill, New York, pp 1797-1806
28. Okada S, O'Brien JS (1968) Generalized gangliosidosis: Betagalactosidase deficiency. Science 160:1002-1004
29. Okamura-Oho Y, Zhang S, Hilson W et al. (1996) Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis. Biochem J 313(Pt 3):787-794 (Pubitemid 26050809)
30. Okumiya T, Sakuraba H, Kase R et al. (2003) Imbalanced substrate specifity of mutant beta-galactosidase in patients with Morquio B disease. Mol Genet Metab 78:51-58 (Pubitemid 36268742)
31. Oshima A, Yoshida K, Itoh K et al. (1994) Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis) . Hum Genet 93:109-114 (Pubitemid 24048177)
32. Oshima A, Yoshida K, Shimmoto M et al. (1991) Human betagalactosidase gene mutations in Morquio B disease. Am J Hum Genet 49:1091-1093 (Pubitemid 21891756)
33. Parenti G (2009) Treating lysosomal storage diseases with pharmacological chaperones. From concept to clinics. EMBO Mol Med 1:268-279
34. Paschke E, Kresse H (1982) Morquio disease type B: activation of GM1- β-galactosidase by GM1-activator protein. Biochem Biophys Res Commun 109:568-575 (Pubitemid 13119348)
35. Pshezhetsky AV, Ashmarina M (2001) Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog Nucleic Acid Res Mol Biol 69:81-114
36. Roze E, Paschke E, Lopez N, Eck T, Yoshida K, Maurel-Ollivier A, Doummar D, Caillaud C, Galanaud D, Billette de Villemeur T, Vidailhet M, Roubergue A (2005) Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 20(10):1366-1369 (Pubitemid 41645916)
37. Schitter G, Steiner AJ, Pototschnig G et al. (2010) Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones. Chembiochem 11:2026-2033
38. Steiner AJ, Schitter G, Stütz AE et al. (2008) 1- deoxygalactonojirimycinlysine hybrids as potent D-galactosidase inhibitors. Bioorg Med Chem 16:10216-10220 (Pubitemid 50324214)
39. Suzuki Y (2008) Chemical chaperone therapy for G(M1)-gangliosidosis. Cell Mol Life Sci 65:351-353
40. Suzuki Y, Ogawa S, Sakakibara Y (2009) Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activites. Perspect Medicin Chem 3:7-19
41. Suzuki Y, Oshima A, Nanba E (2001) β-galactosidase deficiency (β- galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp 3775-3809
42. Suzuki K, Suzuki KI, Kamoshita S (1969) Chemical pathology of GM1-gangliosidosis (generalized gangliosidosis) . J Neuropathol Exp Neurol 28:25-73
43. Tominaga L, Ogawa Y, Taniguchi M et al. (2001) Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain Dev 23:284-287 (Pubitemid 32739212)
44. Van der Spoel A, Bonten E, d'Azzo A (1998) Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. EMBO J 17:1588-1597 (Pubitemid 28119112)
45. Yamamoto Y, Hake CA, Martin BM et al. (1990) Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA. DNA Cell Biol 9:119-127 (Pubitemid 20125987)
46. Yang CF, Wu JY, Tsai FJ (2010) Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. J Biomed Sci 17:79
47. Yoshida K, Oshima A, Shimmoto M et al. (1991) Human betagalactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet 49:435-442 (Pubitemid 21891691)
48. Zhou XY, van der Spoel A, Rottier R et al. (1996) Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum Mol Genet 5:1977-1987 (Pubitemid 26413643)