63. Mutation and Tissue Preferential Accumulation of Glucosylceramides in Gaucher Disease Mouse Model
Poster: Mon 2:00-3:00PM
Wujuan Zhang
Cincinnati Children's Hospital
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Sphingolipids and glycosphingolipids are essential structural components of mammalian cell membranes. They are involved in the etiology of numerous lipid storage diseases including Gaucher’s disease, the most prevalent lysosomal storage disease. Gaucher’s disease is manifest by the excessive accumulation of glucosylceramide in macrophages. We recently developed a rapid and practical LC-MS/MS method for the analysis of sphingolipid molecular species in various biological origins including mouse liver, kidney, spleen, lung and brain tissue. The method was applied to analysis of glucosylceramide species in Gaucher’s disease mouse models and with this approach our data indicate tissue preferential accumulation of glucosylceramides.