文章基本信息

标题：Defective functionality of HDL particles in familial apoA-I deficiency: relevance of alterations in HDL lipidome and proteome
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作者：Fabiana Rached ; Raul D. Santos ; Laurent Camont 等
期刊名称：JLR Papers In Press
印刷版ISSN：0022-2275
电子版ISSN：1539-7262
出版年度：2014
卷号：55
期号：12
页码：2509-2520
DOI：10.1194/jlr.M051631
语种：English
出版社：American Society for Biochemistry and Molecular Biology
摘要：To evaluate functional and compositional properties of HDL in subjects from a kindred of genetic apoA-I deficiency, two homozygotes and six heterozygotes, with a nonsense mutation at APOA1 codon -2, Q[-2]X, were recruited together with age- and sex-matched healthy controls (n = 11). Homozygotes displayed undetectable plasma levels of apoA-I and reduced levels of HDL-cholesterol (HDL-C) and apoC-III (5.4% and 42.6% of controls, respectively). Heterozygotes displayed low HDL-C (21 ± 9 mg/dl), low apoA-I (79 ± 24 mg/dl), normal LDL-cholesterol (132 ± 25 mg/dl), and elevated TG (130 ± 45 mg/dl) levels. Cholesterol efflux capacity of ultracentrifugally isolated HDL subpopulations was reduced (up to −25%, P P
关键词：high density lipoprotein ; apolipoprotein A-I ; familial deficiency ; genetics ; HDL functionality ; cellular cholesterol efflux ; antioxidative activity ; lipidomics