Journal
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
Volume 1864, Issue 8, Pages 1109-1123Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbalip.2019.04.002
Keywords
Lysosomal storage disorders; Cholesterol; Sphingolipid; Niemann-Pick; Neurodegeneration; Blood-brain barrier; Therapies
Funding
- Ara Parseghian Medical Research Foundation
- Dana's Angels Research Trust
- Neurological Foundation of New Zealand
- New Zealand Organisation of Rare Diseases
- Actelion Pharmaceuticals
- National Niemann-Pick Disease Foundation
- National Institutes of Health [DK54320, GM1.29465]
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Niemann-Pick type C (NP-C) disease is a rare and fatal neurodegenerative disease typified by aberrations in intracellular lipid transport. Cholesterol and other lipids accumulate in the late endosome/lysosome of all diseased cells thereby causing neuronal and visceral atrophy. A cure for NP-C remains elusive despite the extensive molecular advances emanating from the identification of the primary genetic defect in 1997. Penetration of the blood-brain barrier and efficacy in the viscera are prerequisites for effective therapy, however the rarity of NP-C disease is the major impediment to progress. Disease diagnosis is challenging and establishment of appropriate test populations for clinical trials difficult. Fortunately, disease models that span the diversity of microbial and metazoan life have been utilized to advance the quest for a therapy. The complexity of lipid storage in this disorder and in the model systems, has led to multiple theories on the primary disease mechanism and consequently numerous and varied proposed interventions. Here, we conduct an evaluation of these studies.
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