Analysis of Extracellular Vesicles Produced by Gaucher Model Macrophage Cells

Abstract

Gaucher disease is a lysosomal storage disease caused by mutations in the glucocerebrosidase gene, which impairs the function of the enzyme acid β-glucosidase, leading to glucosylceramide and sphingolipids accumulation within the lysosomes of mainly macrophages. Therefore, the aim of this thesis is to demonstrate that Gaucher cells are responsible for a larger amount of extracellular vesicles release compared to normal cells. In order to do that, THP-1 cells were differentiated into control and Gaucher cell macrophages which went through different pore size filtrations and centrifugations in order to get the different size extracellular vesicles. The amount of ECVs in control and Gaucher samples at determined diameter ranges was measured using the qNano instrument. In addition, this thesis proposes a theory for the increasing amount of ECVs released by Gaucher cells based on the cell membrane composition.