Abstract: A biochemical study of three patients with clinical symptoms of Gaucher disease wascarried out. Two of them had a significant deficiency of b-glucocerebrosidaseactivity (a primary enzyme defect) in leukocytes and an enormous increasing ofchitotriosidase activity in blood plasma that confirmed the diagnosis of Gaucher disease.Some differences in stability of mutant enzymes were found in these two cases. Mutationanalysis revealed two point mutations - N370S and L444P in b-glucocerebrosidasegene of both patients. Correlation between clinical picture, peculiarities of enzymaticdefect and genetic status of patients is discussed. The influence of some epigeneticfactors on phenotypic manifestation of the disease is supposed.
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Reference: Beyer E.M., Bukina T.M., Tsvetkova I.V., Biochemical and genetic diagnosis of gaucher disease and phenotypic heterogeneity of the disease, Voprosy meditsinskoi khimii, 2000, vol: 46(5), 451-454.
2. Aerts J.M.F.G., van Weely S., Broot R, Hollak C.EM., Tager G.M. (1993). J.Inher.Metab.Dis., 16,288-291. Scholar google search
3. Hollak C.E.M., van Weely S., van OersM.H.J., Aerts J.M.F.G. (1994). J.Clin.Ivest, 93,1288-1292. Scholar google search
4. Guo Y, He W., Boer AM., Wevers RA., de Bruijn AM, Groener J.E.M., Hollak C.E.M., Aerts J.M.F.G., Gaijaard H, van Diggelen O.P. (1995). J.Inher.Metab.Dis., 18, 717-722. Scholar google search
5. Kolodny E.H. (1977). Practical Enzymology of Sphingolipidoses.Eds. Glew R.H., Peters S.R. -New York: A.R.Liss, pp. 1-38. Scholar google search
6. Lindblom B., Holmlund G. (1988). Gene Annal.Tech, 5, 94-101. Scholar google search
7. Saiki RK., Gelland D.H., Stoffel S., et al.(l9SS). Science, 239, 487-491. Scholar google search
8. Tsvetkova I. V., Karpova E.A., Dudukina T. V., Voznyi Y. V. (1996). Clin.Chim.Acta, 248, 125-133. Scholar google search
9. Gal A.E., Brady RO., Hibbert S.R, Pentchev P.G. (1975). The New Engl.J.Med., 293,632-636. Scholar google search
10. Grace M.E., Newman KM., Scheinker V., Berg-Fussman A., Grabovski G.A. (1994). J.Biol.Chem., 269, 2283-2291. Scholar google search
