Russian Journal

ISSN 0042-8809

Issue:
Volume 43, issue 3

Title:
CHANGE OF ISOFORMS' SPECTRA OF a-L-FUCOSIDASE SECRETED BY AFFECTED-CELLS IN SOME HEREDITARY LYSOSOMAL DISEASES

Authors:
T.S.Ivleva, E.M.Beyer, N.A.Ushakova, V.A.Malakhova*, E.A.Karpova, I.V.Tsvetkova*

Address:
Institute of Biomedical Chemistry, Russian Academy of Medical Sciences, Pogodinskaya St. 10, Moscow 119832, Russia
* Research Centre for Medical Genetic, Moskvorech'e St. 1, Moscow 115478, Russia

Abstract:
In vitro it was studied the isoform spectra of the intracellular and secreted a-L-fucosidase from skin fibroblasts of patients with Fabry discase (glycolipidosis), Hurler and Sanfilippo D deseases (mucopolysaccharodosis, types I and III) and in the normal state was studied. It was shown that the multiple form profile of secreted a-L-fucosidase in patients fibroblasts was changed as compared to that in control: the pathological cells were characterized by expression of more basic isoforms of a-L-fucosidase. The changes were similar to those in sucrose-loaded normal cells, modelling storage disease. The data obtained allow the suggestion that the intracellular accumulation of compounds whose hydrolysis was disturbed on a hereditary deficiency of enumerated glycosidases can influence the posttranslational processing of a-L-fucosidase, the enzyme which is not primary affected in these disorders. These data allow the conclusion that the high phenotypic heterogenity of lysosomic storage diseases is possibly due to the influence of so-cal led epigenetic factors involving the changes in properties of such glycosidases as are not associated with a primary hereditary defect.

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