Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.

ABSTRACT: Niemann-Pick disease type C (NPC) is a neurovisceral disorder associated with the accumulation of lipids such as cholesterol and sphingolipids. NPC is caused by either NPC1 or NPC2, which encode lysosomal proteins located at membraneous and soluble fractions, respectively. For the past decade, the oxidation products of cholesterol, such as cholestane-3β,5α,6β-triol and 7-ketocholesterol, have been considered selective biomarkers for NPC. However, recent evidence has indicated numerous novel biomarkers for NPC, which raises the possibility that the diagnosis of NPC might be associated with the elevation of multiple lipid biomarkers, rather than a single biomarker. Sphingosylphosphorylcholine (SPC) has been suggested to be one such biomarker for NPC, in which elevated sphingomy

SUBMITTER: Mashima R 

PROVIDER: S-EPMC6047109 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature