To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model

Kidney Int. 2009 Feb;75(4):351-3. doi: 10.1038/ki.2008.606.

Abstract

Thomaidis and colleagues have created a cellular model of Anderson-Fabry disease by 'silencing' alpha-galactosidase A (AGAL) activity in human tubular epithelial cells. Increased membrane globotriaosylceramide (Gb3/CD77) expression was observed; it is suggested that this finding may be potentially useful as a surrogate marker of disease severity. Decreased membrane Gb3/CD77 expression was observed following agalsidase-alpha treatment, providing evidence of changes in cellular phenotype in response to enzyme therapy.

Publication types

  • Comment

MeSH terms

  • Animals
  • Disease Models, Animal
  • Epithelial Cells / pathology*
  • Fabry Disease / etiology*
  • Fabry Disease / pathology
  • Gene Silencing
  • Humans
  • Models, Biological*
  • alpha-Galactosidase / genetics*

Substances

  • alpha-Galactosidase