Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

ABSTRACT: Niemann-Pick type C1 (NPC1) disease is a rare progressive neurodegenerative disorder characterized by accumulation of cholesterol in the endolysosomes. Previous studies implicating oxidative stress in NPC1 disease pathogenesis raised the possibility that nonenzymatic formation of cholesterol oxidation products could serve as disease biomarkers. We measured these metabolites in the plasma and tissues of the Npc1(-/-) mouse model and found several cholesterol oxidation products that were elevated in Npc1(-/-) mice, were detectable before the onset of symptoms, and were associated with disease progression. Nonenzymatically formed cholesterol oxidation products were similarly increased in the plasma of all human NPC1 subjects studied and delineated an oxysterol profile specific for NPC1 diseas

SUBMITTER: Porter FD 

PROVIDER: S-EPMC3170139 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature