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Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases
Journal article   Open access   Peer reviewed

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann-Pick diseases

Mark L. Schultz, Maria Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, …
BMC medicine, Vol.17(1), pp.200-200
11/11/2019
DOI: 10.1186/s12916-019-1423-5
PMCID: PMC6849328
PMID: 31711490
url
https://doi.org/10.1186/s12916-019-1423-5View
Published (Version of record) Open Access

Abstract

Background Niemann-Pick disease type C is a fatal and progressive neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in late endosomes and lysosomes. We sought to develop new therapeutics for this disorder by harnessing the body's endogenous cholesterol scavenging particle, high-density lipoprotein (HDL). Methods Here we design, optimize, and define the mechanism of action of synthetic HDL (sHDL) nanoparticles. Results We demonstrate a dose-dependent rescue of cholesterol storage that is sensitive to sHDL lipid and peptide composition, enabling the identification of compounds with a range of therapeutic potency. Peripheral administration of sHDL to Npc1 I1061T homozygous mice mobilizes cholesterol, reduces serum bilirubin, reduces liver macrophage size, and corrects body weight deficits. Additionally, a single intraventricular injection into adult Npc1 I1061T brains significantly reduces cholesterol storage in Purkinje neurons. Since endogenous HDL is also a carrier of sphingomyelin, we tested the same sHDL formulation in the sphingomyelin storage disease Niemann-Pick type A. Utilizing stimulated Raman scattering microscopy to detect endogenous unlabeled lipids, we show significant rescue of Niemann-Pick type A lipid storage. Conclusions Together, our data establish that sHDL nanoparticles are a potential new therapeutic avenue for Niemann-Pick diseases.
General & Internal Medicine Life Sciences & Biomedicine Medicine, General & Internal Science & Technology

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