title: Characterization of storage material in cultured fibroblasts by specific lectin binding in lysosomal storage diseases.
abstract: The lysosomal storage material in cultured fibroblasts from patients with various lysosomal storage diseases was characterized by fluorescence microscopy using lectins specific for different saccharide moieties. In normal fibroblasts and cultured amniotic fluid cells lectins specific for mannosyl and glucosyl moieties, Con A and LcA gave a bright perinuclear cytoplasmic staining corresponding to the localization of endoplasmic reticulum in the cells. All other lectins stained the Golgi apparatus as a juxtanuclear reticular structure. In fucosidosis fibroblasts, only lectins specific for fucosyl groups LTA and UEA, distinctly stained the lysosomal inclusions. The lysosomes in mannosidosis fibroblasts did not react with Con A and LcA, both specific for mannosyl moieties of glycoconjugates, but were brightly labeled with WGA, a lectin specific for N-acetyl glucosaminyl moieties. In I-cell fibroblasts, the numerous perinuclear phase-dense granules, representing abnormal lysosomes, were labeled with every lectin used. In fibroblasts from patients with Salla disease, a newly discovered lysosomal storage disorder, the lysosomes were brightly stained only with LPA, indicating the presence of increased amounts of sialic acid residues in the lysosomal inclusions.
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism* / Q000648:ultrastructure; D005456:Fluorescent Dyes; D005643:Fucose / Q000031:analogs & derivatives / Q000378:metabolism; D005947:Glucose / Q000031:analogs & derivatives / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D037102:Lectins; D008247:Lysosomes / Q000378:metabolism* / Q000648:ultrastructure; D008358:Mannose / Q000031:analogs & derivatives / Q000378:metabolism; D009081:Mucolipidoses / Q000378:metabolism*
chemical_list: D005456:Fluorescent Dyes; D037102:Lectins; D005643:Fucose; D005947:Glucose; D008358:Mannose