Preparation and application of mouse model for the study on chaperone therapy for Fabry disease

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The purpose of our study is to establish a mouse model for the chaperone therapy for Fabry disease. Fabry disease is an inherited disease caused by the deficient activity of α-galactosidase A and resulted to accumulation of glycosphingolipid, predominantly globotriaosylceramide (Gb3). The mouse model established previously was good for the determination of enzyme activity but not for the accumulation of Gb3 on the effect of drug candidates. In our present study, we prepared the transgenic mouse expressing human Gb3 synthase gene, and we succeeded a mouse model in which we can determine the effect of compounds on both enzyme activity and Gb3 content.