Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease

Mol Genet Metab. 2008 Jul;94(3):313-8. doi: 10.1016/j.ymgme.2008.03.008. Epub 2008 May 5.

Abstract

Fabry disease is a progressive, life-threatening lysosomal storage disorder which is characterized by deficient activity of the lysosomal enzyme alpha-galactosidase A. Studies have demonstrated that both enzyme preparations currently available for treatment of Fabry disease (i.e., agalsidase beta and agalsidase alpha) elicit immune responses in the majority of patients which negatively influences the reduction of urinary globotriaosylceramide concentration. In the current study, agalsidase beta antibodies were found to be associated with inhibition of alpha-Gal A enzyme activity in cultured Fabry fibroblast and tissues from Fabry mice. However, the negative effect of antibody formation could be overcome by increasing the dose of enzyme administered to mice. In conclusion, antibody titers and the dose of enzyme influenced alpha-Gal A enzyme activities in vivo. Further studies are required to investigate to what extend antibody formation impacts on therapeutic responses in antibody positive Fabry patients receiving enzyme replacement therapy and if negative effects can be overcome by adjusting the dose of enzyme.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Antibodies / blood
  • Antibodies / pharmacology*
  • Cells, Cultured
  • Child
  • Disease Models, Animal
  • Fabry Disease / chemically induced*
  • Fabry Disease / enzymology*
  • Fabry Disease / immunology
  • Fabry Disease / pathology
  • Fibroblasts / enzymology*
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Humans
  • Kidney / enzymology
  • Liver / enzymology
  • Lung / enzymology
  • Male
  • Mice
  • Mice, Knockout
  • Middle Aged
  • Myocardium / enzymology
  • Serum / immunology*
  • Spleen / enzymology
  • alpha-Galactosidase / antagonists & inhibitors
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / immunology
  • alpha-Galactosidase / metabolism*

Substances

  • Antibodies
  • alpha-Galactosidase