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Characterization of the NPC1L1 gene and proteome from an exceptional responder to ezetimibe.

Atherosclerosis.. 2016-03; 
Schweitzer M,Makhoul S,Paliouras M,Beitel LK,Gottlieb B,Trifiro M,Chowdhury SF,Zaman NM,Wang E,Davis H,Chalifour LE.
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Mutagenesis Services ... WT-NPC1L1 was mutagenized (GenScript, Piscataway, NJ) by site-directed mutagenesis to create L52P-NPC1L1, I300T-NPC1L1 and S489G-NPC1L1. A fourth construct contained all three amino acids changes (Comb-NPC1L1). ... Get A Quote

摘要

BACKGROUND: Strategies to reduce LDL-cholesterol involve reductions in cholesterol synthesis or absorption. We identified a familial hypercholesterolemia patient with an exceptional response to the cholesterol absorption inhibitor, ezetimibe. Niemann-Pick C 1-like 1 (NPC1L1) is the molecular target of ezetimibe. METHODS AND RESULTS: Sequencing identified nucleotide changes predicted to change amino acids 52 (L52P), 300 (I300T) and 489 (S489G) in exceptional NPC1L1. In silico analyses identified increased stability and cholesterol binding affinity in L52P-NPC1L1 versus WT-NPC1L1. HEK293 cells overexpressing WT-NPC1L1 or NPC1L1 harboring amino acid changes singly or in combination (Comb-NPC1L1) had reduced chol... More

关键词

Cholesterol; Cholesterol/absorption; Cholesterol/cell and tissue; Drug therapy/hypolipidemic drugs; Genetics; Proteomics