We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of...

The objective of the present study was to detect the association of the rs4731702 single nucleotide polymorphism (SNP) and serum lipid levels in the Guangxi Mulao and Han populations. A total of 727 subjects of Mulao and 740 subjects of Han Chinese were included. Serum low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels were higher in Mulao than in Han (P < 0.05). The ...

Patients with type 1 diabetes have greatly increased phospholipid transfer protein (PLTP) activity and have an altered HDL subclass distribution. In 195 patients with type 1 diabetes and in 194 men and women aged 30-55 years, we examined the relationship of PLTP activity to HDL and examined whether PLTP activity contributes to differences in HDL found in type 1 diabetes. PLTP activity was measu...

The apoAI/CIII/AIV gene cluster is involved in lipid metabolism and has a complex pattern of gene expression modulated by a common regulatory element, the apoCIII enhancer. A new member of this cluster, apolipoprotein (apo) AV, has recently been discovered as a novel modifier in triglyceride metabolism. To determine the expression of all four apo genes in combination and, most importantly, whet...

OBJECTIVE To explore the relationship between polymorphisms of XbaI and MspI loci of apolipoprotein B (ApoB) gene and -75 bp, +83 bp loci of apolipoprotein AI (ApoAI) gene and coronary heart disease (CHD) in Kazaks of Xinjiang Uyghur Autonomous Region, China. METHODS These loci were analyzed by PCR-restriction fragment length polymorphism (PCR-PFLP). Two hundred and five patients with CHD and...

OBJECTIVE ABCA1-dependent and ABCA1-independent pathways may operate in high-density lipoprotein formation by macrophages secreting apolipoprotein (apo) E. We examined the impact of ABCA1 on apoE-mediated efflux from cholesterol-enriched macrophages. METHODS AND RESULTS Without acceptors, wild-type, ABCA1-/-, and apoE-/- macrophages released 5.7%+/-0.3%, 1.8%+/-0.1%, and 2.3%+/-0.2% of their ...

OBJECTIVE Endothelial lipase (EL) is expressed by macrophages within atherosclerotic lesions. We investigated the influence of EL expression on cholesterol efflux in macrophages. METHODS AND RESULTS The present study used lentivirus to introduce either EL shRNA for loss-of-function studies or EL cDNA for gain-of-function studies to investigate the role of EL in apoAI-mediated cholesterol effl...

The atheroprotective effects of HDL are mediated by several mechanisms, including its role in reverse cholesterol transport and via its antiinflammatory properties. However, not all HDL is functionally similar. HDL and apolipoprotein A-I may become dysfunctional or even proinflammatory and thus promote atherosclerosis. ApoAI posttranslational modification can have a large impact on its function...

The metabolic syndrome is characterized by insulin resistance and abnormal apolipoprotein AI (apoAI) and apolipoprotein B-100 (apoB) metabolism that may collectively accelerate atherosclerosis. The effects of atorvastatin (40 mg/day) and micronised fenofibrate (200 mg/day) on the kinetics of apoAI and apoB were investigated in a controlled cross-over trial of 11 dyslipidemic men with the metabo...

Conventional wisdom suggests that halting or reversing long-term atherosclerosis requires increasing the amount of circulating high-density lipoprotein (HDL) coursing through the vasculature. However, recent evidence seems to indicate that reducing the size of cholesterol-containing lipid plaques might be accomplished by methods that either do not raise or, in fact, lower the amount of circulat...