title: [Change of isoforms' spectrum of alpha-L-fucoside secreted by affected cells in some hereditary lysosomal diseases].
abstract: In vitro it was studied the isoform spectra of the intracellular and secreted alpha-L-fucosidase from skin fibroblasts of patients with Fabry disease (glycolipidosis), Hurler and Sanfilippo D diseases (mucopolysaccharodosis, types I and III) and in the normal state was studied. It was shown that the multiple form profile of secreted alpha-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 alpha-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 alpha-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-called epigenetic factors involving the changes in properties of such glycosidases as are not associated with a primary hereditary defect.
authors.affiliation: Institute of Biomedical Chemistry RAMN, Moscow.
authors.forename: T S
authors.initials: TS
authors.lastname: Ivleva
authors.forename: E M
authors.initials: EM
authors.lastname: Beíer
authors.forename: N A
authors.initials: NA
authors.lastname: Ushakova
authors.forename: V A
authors.initials: VA
authors.lastname: Malakhova
authors.forename: E A
authors.initials: EA
authors.lastname: Karpova
authors.forename: I V
authors.initials: IV
authors.lastname: Tsvetkova
mesh_terms: D002478:Cells, Cultured; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D006801:Humans; D007424:Intracellular Fluid / Q000201:enzymology; D016464:Lysosomal Storage Diseases / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D009084:Mucopolysaccharidosis III / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D014176:Protein Biosynthesis; D012867:Skin / Q000201:enzymology* / Q000473:pathology; D005644:alpha-L-Fucosidase / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics
chemical_list: D005644:alpha-L-Fucosidase