REVIEW article
Front. Cell. Neurosci.
Sec. Cellular Neuropathology
Extracellular vesicles in Niemann Pick Disease Type C: Current knowledge and future opportunities
Provisionally accepted
- Anesthesiology & Perioperative Medicine, Oregon Health and Science University, Portland, United States
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Niemann Pick Disease Type C (NPC) is a rare neurodegenerative disease that primarily affects children. It is caused by mutations in the NPC1 or NPC2 genes, which encode proteins that transport cholesterol out of the endolysosomal organelles. Endolysosomal compartments also produce extracellular vesicles (EVs), which have emerged as key players in human disease. There is rapidly growing interest in how NPC cellular pathology impacts EV biology: of the 18 peer-reviewed publications on this topic, 13 were published within the last five years. Collectively, the existing literature suggests that the NPC proteins play key roles in EV biogenesis and uptake, that EV concentration and cargo are fundamentally altered in samples with NPC1/2 protein dysfunction, and that EVs may contribute to the therapeutic effects of NPC treatments. To better elucidate the connections between NPC and EVs further research is needed, especially in patient samples. Ultimately, a better understanding of the role of EVs in NPC will likely shed light on basic EV biology, related cellular neuropathologies, and a rare childhood disease that currently has no cure.
Keywords: endolysosomal pathway6, Extracellular vesicles1, lysosomal storage disorder5, neurodegeneration4, Niemann Pick Disease Type C2, rare disease3
Received: 23 Oct 2025; Accepted: 09 Dec 2025.
Copyright: © 2025 Hawthorne, Sandau and Saugstad. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Julie A Saugstad
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