Skip to main content
SpringerLink
Log in

Distribution of mutations of acid β-D-glucosidase Gene (GBA) among 68 Russian patients with Gaucher’s disease

  • Clinical Studies
  • Published:
Biochemistry (Moscow) Supplement Series B: Biomedical Chemistry Aims and scope Submit manuscript

Abstract

Gaucher disease (GD) is the most frequent lysosomal storage disease presenting in all populations. Mutations in the acid β-D-glucosidase gene (GBA) cause development of GD, resulting in a decrease or full loss of activity of this enzyme. We report here the results of the molecular-genetic analysis in 68 Russian GD patients from 65 families with the three types of this disease. The GD genotype has been completely elucidated in 58 patients and in all patients we have found at least one mutant allele (92.6%). Besides frequent mutations (p.N370S, c.1263_1317del (del55), p.L444P, p.R463C, Rec NciI) we have identified rare mutations p.R120W, p.R170C, p.R184W, p.G202R, Rec C (p.R120W; p.W184R; p.N188K; p.V191G; p.S196P; p.G202R; p.F213I), presenting in other populations of GD patients. The mutations p.P236T, p.L249Q, p.L288P, p.P319S, p.V352M, p.W381X, p.A384D identified in this study had not been described before. The GBA mutations identified in Russian patients have been compared with those found in patients of other European countries. Genotype-phenotype correlations in GD are discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Beutler, E. and Grabowski, G.A., in The Metabolic and Molecular Bases of Inherited Disease, Scriver, C.R., Beaudet, A.L., Valle, D., Sly, W.S., Eds., New York: McGraw-Hill, 2001, pp. 3635–3668.

  2. Sidransky, E., Sherer, D.M., and Ginns, E.I., Pediatr Res., 1992, vol. 32, pp. 494–498.

    Article  CAS  Google Scholar 

  3. Berrebi, A., Wishnitzer, R., and Von-der-Walde, U., Nouv. Rev. Fr Hematol., 1984, vol. 26, pp. 201–203.

    CAS  Google Scholar 

  4. Horowitz, M., Wilder, S., Horowitz, Z., Reiner, O., Gelbart, T., and Beutler, E., Genomics, 1989, vol. 4, p. 87.

    Article  CAS  Google Scholar 

  5. Beutler, E., Demina, A., and Gelbart, T., Mol. Med., 1994, vol. 1, pp. 82–92.

    CAS  Google Scholar 

  6. Koprivica, V., Stone, D.L., Park, J.K., Callahan, M., Frish, A., Cohen, I.J., Tavebi, N., Sidransky, E., et al., J. Hum. Genet., 2000, vol. 66, pp. 1777–1786.

    Article  CAS  Google Scholar 

  7. Kawame, H., Maekawa, K., and Eto, Y., Hum. Mut., 1993, vol. 2, pp. 362–367.

    Article  CAS  Google Scholar 

  8. Eto, Y and Ida, H., Neurochem. Res., 1999, vol. 24, pp. 207–211.

    Article  CAS  Google Scholar 

  9. Amaral, O., Lacedra, L., Santos, R., Pinto, R.A., Aerts, J., SaMirada, M.C., et al., Biochem. Med. Metab. Biol., 1993, vol. 49, pp. 97–107.

    Article  CAS  Google Scholar 

  10. Amaral, O., Pinto, F., Fortuno, M., Lacerda, L., SaMirada, M.C., et al., Hum. Mut., 1996, vol. 8, pp. 280–281.

    Article  CAS  Google Scholar 

  11. McGabe, E.R.B., Fine, B.A., Globus, M.S., et al., JAMA, 1996, vol. 275, pp. 548–553.

    Article  Google Scholar 

  12. Beier, E.M., Bukina, T.M., and Tsvetkova, I.I., Vopr Med. Khim., 2000 vol. 46, pp. 451–454.

    CAS  Google Scholar 

  13. Bukina, T.M., Vestnik RGMU, 2002, vol. 25, no. 4, pp. 39–42.

    Google Scholar 

  14. Condie, A., Borresen, A-L., Eeles, R., Eeles, R., Borresen, A.L., Coles, C., Cooper, C., Prosser, J., et al., Hum. Mut., 1993, vol. 2, pp. 58–66.

    Article  CAS  Google Scholar 

  15. Stone, D.L., Tavebi, N., Orvisky, E., Stubblefield, B., Madike, V., and Sidransky, E., Hum. Mut., 2000, vol. 15, pp. 181–188.

    Article  CAS  Google Scholar 

  16. Bukina, T.M., Biochemical and Molecular Biological Characteristics of Gaucher’s Disease in Russian Patients, Candidate’s Dissertation, GU MGNTS RAMN, Moscow, 2005

    Google Scholar 

  17. Galiaard, H., Genetic Metabolic Diseases. Early Diagnosis and Prenatal Diagnosis, Amsterdam-New YorkOxford: Elsevier/North-Holland Biomedical Press, 1980.

    Google Scholar 

  18. Guo, Y., He, W., Boer, A.M., Wevers, R.A., de Bruun, A.M., Groener, J.E.M., Hollak, C.E.M., Aerts, J.M., Galiaard, H., van Diggelen, O.P., et al., J. Inher Metab. Dis., 1995, vol. 18, pp. 717–722.

    Article  CAS  Google Scholar 

  19. Sandhoff, K., van Echten, G., Schroder, M., Schnabel, D., and Suzuki K., Biochem. Soc. Trans., 1992, vol. 20, p. 695.

    CAS  Google Scholar 

  20. Latham, T.E., Theophilus, B.D., Grabowsky, G.A., and Smith, F.I., DNA Cell Biol., 1991, vol. 10, pp. 15–21.

    Article  CAS  Google Scholar 

  21. Latham, T., Grabowski, G.A., Theophilus, B.D., and Smith, F.I., Am. J. Hum. Genet., 1990, vol. 47, pp. 79–86.

    CAS  Google Scholar 

  22. Tang, N.L.S., Zhang, W., Grabowski, G.A., To, K.F., Choy, F.Y.M., Ma, S.L., and Shi, H.P., Hum. Mut., 2005, vol. 26, pp. 59–60.

    Article  Google Scholar 

  23. Lachmann, R.H., Grant, I.R., Halsall, D., and Cox, T.M., QJM, 2004, vol. 97, pp. 199–204.

    Article  CAS  Google Scholar 

  24. Berent, S.L. and Radin, N.S., Biochim. Biophys. Acta, 1981, vol. 664, pp. 572–582.

    Article  CAS  Google Scholar 

  25. Grabowski, G.A. and Horowitz, M., Baillieres Clin. Haematol., 1997, vol. 10, pp. 635–656.

    Article  CAS  Google Scholar 

  26. Liou, B., Kazimierczuk, A., Zhang, M., Scott, C.R., Hegde, R.S., and Grabowski, G., J. Biol. Chem., 2005, vol. 281, pp. 4242–4253.

    Article  Google Scholar 

  27. Beutler, E. and Gelbart, T., Hum. Mut., 1996, vol. 8, pp. 207–213.

    Article  CAS  Google Scholar 

  28. Countre, P., Demina, A., Beutler, T., Beck, M., and Petrides, PE., Hum. Genet., 1997, vol. 99, pp. 816–820.

    Article  Google Scholar 

  29. Cormand, B., Grinbeg, D., Gort, L., Chabas, A., Vilageliu, L., et al., Hum. Mut., 1998, vol. 11, pp. 295–305.

    Article  CAS  Google Scholar 

  30. Tsuji, S., Choudary, P.V., Martin, B.M., Stubblefield, B.K., Mayor, J.A., Borrangez, J.A., Ginns, E.L., et al., N. Engl. J. Med., 1987, vol. 316, pp. 570–574.

    Article  CAS  Google Scholar 

  31. Hong, C.M., Ohashi, T., Yu, X.J, Weiler, S., and Barranger, J.A., DNA Cell Biol., 1990, vol. 9, pp. 233.

    Article  CAS  Google Scholar 

  32. Hatton, C.E., Cooper, A., Whitehouse, C., and Wraith, J.E., Arch. Dis. Chieldhood, 1997, vol. 77, pp. 17–22.

    Article  CAS  Google Scholar 

  33. Hodanova, K., Hrebicek, M., Cervenkova, M., Mzazova, L., Veprekova, L., Zemen, J. et al., Blood Cell Mol. Dis., 1999, vol. 25, n.18, pp. 287–298.

    Article  Google Scholar 

  34. Beutler, E., Gelbart, T., and West, C., Genomics, 1993, vol. 15, pp. 203–205.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Research Centre for Medical Genetics RAMS, ul. Moskvorech’e l, Moscow, 115478, Russia

    T. M. Boukina

  2. Institute of Biomedical Chemistry RAMS, Pogodinskaya ul. 10, Moscow, 119121, Russia

    I. V. Tsvetkova

Authors
  1. T. M. Boukina
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I. V. Tsvetkova
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T. M. Boukina.

Additional information

Original Russian Text © T.M. Boukina, I.V. Tsvetkova, 2008, published in Biomeditsinskaya Khimiya.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Boukina, T.M., Tsvetkova, I.V. Distribution of mutations of acid β-D-glucosidase Gene (GBA) among 68 Russian patients with Gaucher’s disease. Biochem. Moscow Suppl. Ser. B 2, 105–110 (2008). https://doi.org/10.1007/s11828-008-1013-0

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11828-008-1013-0

Key words

Search

Navigation