DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts

Molecular Genetics and Metabolism

Volumn 100, Issue 3, 2010, Pages 262-268

  Fantur, Katrin ^a   Hofer, Doris ^a   Schitter, Georg ^b   Steiner, Andreas J ^b   Pabst, Bettina M ^a   Wrodnigg, Tanja M ^b   Stütz, Arnold E ^b   Paschke, Eduard ^a  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b GRAZ UNIVERSITY OF TECHNOLOGY   (Austria)

Author keywords

Galactosidase; DLHex DGJ; Enzyme enhancement therapy; GM1 Gangliosidosis; Morquio B disease; Pharmacological chaperone

Indexed keywords

1 DEOXYGALACTONOJIRIMYCIN DERIVATIVE; BETA GALACTOSIDASE; CHAPERONE; ENZYME PRECURSOR; GANGLIOSIDE GM1; GENE PRODUCT; GLYCOSIDASE INHIBITOR; IMINOSUGAR; KERATAN SULFATE; METHYL 6 [[N2 [DANSYL] N6 (1,5 DIDEOXY GALACTITOL 1,5 DIYL) LYSYL]AMINO]HEXANOATE; PROTEIN PRECURSOR; UNCLASSIFIED DRUG;

ARTICLE; COMPETITIVE INHIBITION; CONTROLLED STUDY; DRUG ACTIVITY; DRUG EFFECT; DRUG SENSITIVITY; DRUG STRUCTURE; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; GM1 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MORQUIO SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING;

1-DEOXYNOJIRIMYCIN; ALLELES; BETA-GALACTOSIDASE; CELL LINE; ENZYME INHIBITORS; FIBROBLASTS; GANGLIOSIDOSIS, GM1; HUMANS; MOLECULAR CHAPERONES; MUCOPOLYSACCHARIDOSIS IV; MUTATION;

EID: 77953024738     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.019     Document Type: Article

References (41)

1. Yamamoto Y., Hake C.A., Martin B.M., Kretz K.A., Ahern-Rindell A.J., Naylor S.L., Mudd M., and O'Brien J.S. Isolation, characterization, and mapping of a human acid beta-galactosidase cDNA. DNA Cell Biol. 9 (1990) 119-127
2. Hinek A., Rabinovitch M., Keeley F., Okamura-Oho Y., and Callahan J. The 67-kDa elastin/laminin-binding protein is related to an enzymatically inactive, alternatively spliced form of beta-galactosidase. J. Clin. Invest. 91 (1993) 1198-1205
3. Pshezhetsky A.V., and Ashmarina M. Lysosomal multienzyme complex: biochemistry, genetics, and molecular pathophysiology. Prog. Nucleic Acid Res. Mol. Biol. 69 (2001) 81-114
4. Hinek A. Biological roles of the non-integrin elastin/laminin receptor. Biol. Chem. 377 (1996) 471-480
5. Oshima A., Yoshida K., Itoh K., Kase R., Sakuraba H., and Suzuki Y. Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis). Hum. Genet. 93 (1994) 109-114
6. Okumiya T., Sakuraba H., Kase R., and Sugiura T. Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease. Mol. Genet. Metab. 78 (2003) 51-58
7. Caciotti A., Donati M.A., Boneh A., d'Azzo A., Federico A., Parini R., Antuzzi D., Bardelli T., Nosi D., Kimonis V., Zammarchi E., and Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum. Mutat. 25 (2005) 285-292
8. Suzuki Y., Oshima A., and Nanba E. β-galactosidase deficiency (β-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, New York 3775-3809
9. Brunetti-Pierri N., and Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol. Genet. Metab. 94 (2008) 391-396
10. Hofer D., Paul K., Fantur K., Beck M., Burger F., Caillaud C., Fumic K., Ledvinova J., Lugowska A., Michelakakis H., Radeva B., Ramaswami U., Plecko B., and Paschke E. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum. Mutat. 30 (2009) 1214-1221
11. D. Hofer, K. Paul, K. Fantur, M. Beck, A. Rouberge, A. Vellodi, B.J. Poorthuis, H. Michelakakis, B. Plecko, E. Paschke, Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations, Clin. Genet., 2010 Feb 11 [Epub ahead of print].
12. Callahan J.W. 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 (1999) 85-103
13. Oshima A., Yoshida K., Shimmoto M., Fukuhara Y., Sakuraba H., and Suzuki Y. Human beta-galactosidase gene mutations in Morquio B disease. Am. J. Hum. Genet. 49 (1991) 1091-1093
14. Yoshida K., Oshima A., Shimmoto M., Fukuhara Y., Sakuraba H., Yanagisawa N., and Suzuki Y. Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases. Am. J. Hum. Genet. 49 (1991) 435-442
15. Chakraborty S., Rafi M.A., and Wenger D.A. Mutations in the lysosomal β-galactosidase gene that cause the adult form of GM1 gangliosidosis. Am. J. Hum. Genet. 54 (1994) 1004-1013
16. Kaye E.M., Shalish C., Livermore J., Taylor H.A., Stevenson R.E., and Breakefield X.O. β-galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. J. Child Neurol. 12 (1997) 242-247
17. Fan J.Q. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol. Chem. 389 (2008) 1-11
18. Benjamin E.R., Flanagan J.J., Schilling A., Chang H.H., Agarwal L., Katz E., Wu X., Pine C., Wustman B., Desnick R.J., Lockhart D.J., and Valenzano K.J. The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J. Inherit. Metab. Dis. 32 (2009) 424-440
19. Khanna R., Soska R., Lun Y., Feng J., Frascella M., Young B., Brignol N., Pellegrino L., Sitaraman S.A., Desnick R.J., Benjamin E.R., Lockhart D.J., and Valenzano K.J. The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol. Ther. 18 (2010) 23-33
20. Begley D.J., Pontikis C.C., and Scarpa M. Lysosomal storage diseases and the blood-brain barrier. Curr. Pharm. Des. 14 (2008) 1566-1580
21. Platt F.M., and Lachmann R.H. Treating lysosomal storage disorders: current practice and future prospects. Biochim. Biophys. Acta 1793 (2009) 737-745
22. Steiner A.J., Schitter G., Stuetz A.E., Wrodnigg T.M., Tarling C.A., Withers S.G., Fantur K., Mahuran D., Paschke E., and Tropak M. 1-deoxygalactonojirimycin-lysine hybrids as potent d-galactosidase inhibitors. Bioorg. Med. Chem. 16 (2008) 10216-10220
23. Asano N. Glycosidase inhibitors: update and perspectives on practical use. Glycobiology 13 (2003) 93R-104R
24. Lowry O.H., Rosebrough N.J., Farr A.L., and Randall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193 (1951) 265-275
25. Leinekugel P., Michel S., Conzelmann E., and Sandhoff K. 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 (1992) 513-523
26. Tominaga L., Ogawa Y., Taniguchi M., Ohno K., Matsuda J., Oshima A., Suzuki Y., and Nanba E. Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain Dev. 23 (2001) 284-287
27. Santamaria R., Chabas A., Coll M.J., Miranda C.S., Vilageliu L., and Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Hum. Mutat. 27 (2006) 1060
28. Morrone A., Bardelli T., Donati M.A., Giorgi M., Di Rocco M., Gatti R., Parini R., Ricci R., Taddeucci G., D'Azzo A., and Zammarchi E. 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
29. Iwasaki H., Watanabe H., Iida M., Ogawa S., Tabe M., Higaki K., Nanba E., and Suzuki Y. Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev. 28 (2006) 482-486
30. Hinek A., Zhang S., Smith A.C., and Callahan J.W. Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kDa spliced variant of beta-galactosidase. Am. J. Hum. Genet. 67 (2000) 23-26
31. Bagshaw R.D., Zhang S., Hinek A., Skomorowski M.A., Whelan D., Clarke J.T., and Callahan J.W. Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease. Biochim. Biophys. Acta 1588 (2002) 247-253
32. 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., and Roubergue A. Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov. Disord. 20 (2005) 1366-1369
33. Nishimoto J., Nanba E., Inui K., Okada S., and Suzuki K. GM1-gangliosidosis (genetic β-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients. Am. J. Hum. Genet. 49 (1991) 566-574
34. Paschke E., Milos I., Kreimer-Erlacher H., Hoefler G., Beck M., Hoeltzenbein M., Kleijer W., Levade T., Michelakakis H., and Radeva B. Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. Hum. Genet. 109 (2001) 159-166
35. Boustany R.M., Qian W.H., and Suzuki K. Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. Am. J. Hum. Genet. 53 (1993) 881-888
36. Santamaria R., Blanco M., Chabas A., Grinberg D., and Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clin. Genet. 71 (2007) 273-279
37. Okamura-Oho Y., Zhang S., Hilson W., Hinek A., and Callahan J.W. 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 (1996) 787-794
38. Lieberman R.L., D'Aquino J.A., Ringe D., and Petsko G.A. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. Biochemistry 48 (2009) 4816-4827
39. Matsuda J., Suzuki O., Oshima A., Yamamoto Y., Noguchi A., Takimoto K., Itoh M., Matsuzaki Y., Yasuda Y., Ogawa S., Sakata Y., Nanba E., Higaki K., Ogawa Y., Tominaga L., Ohno K., Iwasaki H., Watanabe H., Brady R.O., and Suzuki Y. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc. Natl. Acad. Sci. USA 100 (2003) 15912-15917
40. Lundt I., Steiner A.J., Stuetz A.E., Tarling C.A., Ully S., Withers S.G., and Wrodnigg T.M. Fluorescently tagged iminoalditol glycosidase inhibitors as novel biological probes and diagnostics. Bioorg. Med. Chem. 14 (2006) 1737-1742
41. Butters T.D., Dwek R.A., and Platt F.M. New therapeutics for the treatment of glycosphingolipid lysosomal storage diseases. Adv. Exp. Med. Biol. 535 (2003) 219-226