Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

ABSTRACT: A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis. For example, substantial difficulties in identifying or excluding NPC in a patient exist in cases with a "variant" biochemical phenotype, where cholesterol levels in cultured fibroblasts, the primary diagnostic indicator, are only moderately elevated. Here we apply quantitative microscopy as an accurate and objective diagnostic tool to measure cholesterol accumulation at the level of single cells. When employed to characterize cholesterol enrichment in fibroblasts from 20 NPC patients and 11 controls, considerable heterogeneity became evident both within the popu

SUBMITTER: Tangemo C 

PROVIDER: S-EPMC3284170 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature