Molecular defect in processing alpha-fucosidase in fucosidosis

Biochem Biophys Res Commun. 1985 Nov 27;133(1):90-7. doi: 10.1016/0006-291x(85)91845-5.

Abstract

In normal human skin fibroblasts, an enzymatically active 53,000-dalton form of alpha-fucosidase is processed to a 50,000-dalton mature form. Endoglycosidase-H treatment of [35S]methionine pulse-chase labelled material immunoprecipated with a polyclonal antibody to alpha-L-fucosidase (Andrews-Smith & Alhadeff, Biochim. Biophys. Acta 715: 90-96 (1982)) indicated the removal of a single N-linked oligosaccharide unit from both precursor and mature form of alpha-L-fucosidase. Tunicamycin pretreatment of normal fibroblasts indicated that no other N-linked oligosaccharide units were present. Studies on fibroblasts from patients with less than 5% of normal alpha-L-fucosidase activity (fucosidosis) showed 8 of 11 patients synthesized no detectable alpha-fucosidase protein whereas 2 synthesized normal amounts of 53,000 dalton precursor, none of the mature 50,000 dalton form was detectable and one contained small amounts of cross-reacting material. This is the first evidence for processing of alpha-L-fucosidase in cells and the first precise evidence of a molecular defect in fucosidosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cells, Cultured
  • Cross Reactions
  • Fibroblasts / enzymology
  • Fucosidosis / enzymology*
  • Humans
  • Molecular Weight
  • Oligosaccharides / analysis
  • Skin / enzymology
  • alpha-L-Fucosidase / analysis
  • alpha-L-Fucosidase / biosynthesis*
  • alpha-L-Fucosidase / immunology

Substances

  • Oligosaccharides
  • alpha-L-Fucosidase