The role of the lysosome in innate immune function

Niemann-Pick Type C disease is a rare, prematurely fatal lysosomal storage disorder. Although NPC is characterized clinically by progressive neurodegeneration, there is also evidence of altered innate immune responses, such as neuroinflammation, that promote disease progression. We have initiated an investigation into whether phagocytosis, an important innate immune activity and the process by which particles are ingested, is defective in NPC.

Key Points:

• Abnormal innate immune response in NPC
• Evidence of defective phagocytosis in in vitro and in vivo models of NPC
• Identify specific mechanisms involved in the phagocytic defect and determine how these mechanisms contribute to disease pathology
• Use knowledge of innate immune abnormalities as a therapeutic target