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

Abstract

Thomaidis and colleagues have created a cellular model of Anderson-Fabry disease by 'silencing' α-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-α treatment, providing evidence of changes in cellular phenotype in response to enzyme therapy. © 2009 International Society of Nephrology.