Characterization of cholesterol homeostasis in telomeraseimmortalized tangier disease fibroblasts reveals marked phenotype variability

Abstract

Background: The reason for the variability in degree of atherosclerosis in Tangier disease remains poorly understood. Results: Tangier fibroblasts with different molecular defects display marked phenotypic variability. Conclusion: Complete ABCA1 deficiency is associated with various potentially atherogenic effects and is compensated for by marked oxysterol-mediated down-regulation of cholesterol biosynthesis. Significance: Elucidation of the link between the degree of ABCA1 deficiency and the in vivo phenotype. © 2013 by The American Society for Biochemistry and Molecular Biology, Inc.