Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

ABSTRACT:

Objective

To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).

Methods

T cells grown from normal individuals or from patients with Fabry disease were tested for response to treatment with DGJ by increased activity of alpha-Gal A.

Results

Cells from normal controls responded with a 28% increase in alpha-Gal A activity, whereas response in Fabry individuals was mutation dependent ranging from no increase to fully normal activity. Nine truncation mutations (all nonresponsive) and 31 missense mutations were tested. Three groups of missense mutations were categorized: responders with activity more than 25% of normal,

SUBMITTER: Shin SH 

PROVIDER: S-EPMC2657085 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature