Cholesterol in Niemann–Pick Type C disease

摘要: Niemann-Pick Type C (NPC) disease is associated with accumulation of cholesterol and other lipids in late endosomes/lysosomes virtually every organ; however, neurodegeneration represents the fatal cause for disease. Genetic analysis has identified loss-of-function mutations NPC1 NPC2 genes as molecular triggers Although precise function these proteins not yet been clarified, recent research suggests that they orchestrate efflux from endosomes/lysosomes. NPC protein deficits result impairment intracellular trafficking dysregulation biosynthesis. Disruption homeostasis also deregulation autophagic activity early-onset neuroinflammation, which may contribute to pathogenesis This chapter reviews achievements investigation disruption homeostasis-induced disease, provides new insight developing a potential therapeutic strategy this disorder.