Apolipoprotein E2 (Lys146→Gln) Causes Hypertriglyceridemia due to an Apolipoprotein E Variant–Specific Inhibition of Lipolysis of Very Low Density Lipoproteins–Triglycerides

• Published in: Arteriosclerosis, thrombosis, and vascular biology Vol. 20; no. 7; pp. 1800 - 1806
• Main Authors: de Beer, Femke, van Dijk, Ko Willems, Jong, Miek C, van Vark, Leonie C, van der Zee, Andre, Hofker, Marten H, Fallaux, Frits J, Hoeben, Rob C, Smelt, Augustinus H. M, Havekes, Louis M
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA American Heart Association, Inc 01.07.2000; Hagerstown, MD Lippincott
• Subjects: Adenoviridae - genetics; Alleles; Animals; Apolipoprotein E2; Apolipoprotein E3; Apolipoproteins E - blood; Apolipoproteins E - genetics; Biological and medical sciences; Disorders of blood lipids. Hyperlipoproteinemia; Gene Expression - physiology; Gene Transfer Techniques; Humans; Hydrolysis; Hyperlipoproteinemia Type III - genetics; Hyperlipoproteinemia Type III - metabolism; Hypertriglyceridemia - genetics; Hypertriglyceridemia - metabolism; Lipolysis - genetics; Lipoproteins, VLDL - metabolism; Liver - metabolism; Male; Medical sciences; Metabolic diseases; Mice; Mice, Knockout; Point Mutation; RNA, Messenger - analysis; Triglycerides - metabolism; Lipoprotein VLDL; Pathogenesis; Deficiency; Genetic variant; Rodentia; Metabolic diseases; Lipids; Hyperlipoproteinemia; Metabolism; Enzymopathy; Vertebrata; Mammalia; Transfection; Gene; Mouse; Apolipoprotein E; Hypertriglyceridemia; Animal; Mutation; Dyslipemia; Comparative study

The apolipoprotein E2 (Lys146→Gln) variant is associated with a dominant form of familial dysbetalipoproteinemia. Heterozygous carriers of this variant have elevated levels of plasma triglycerides, cholesterol, and apolipoprotein E (apoE). It was hypothesized that the high amounts of triglycerides i...