Proteomic analysis of bone-marrow derived macrophages from NPC1 KO mice

Niemann-Pick type C (NPC) disease is an inherited lysosomal storage disorder mainly driven by mutations in NPC1 gene, causing lipid accumulation within late endosomes/lysosomes, and resulting in progressive neurodegeneration. To study the effect of NPC1 deficiency on the innate immune system, we performed proteomics on bone-marrow derived macrophages (BMDMs) of NPC1 KO and WT mice. Without further treatment or activation, BMDMs of NPC1 KO mice showed alterations mainly related to cholesterol metabolism, which is in line with the intracellular cholesterol transport function of NPC1.