Characterization of a unique human apolipoprotein E variant associated with type III hyperlipoproteinemia.
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چکیده
منابع مشابه
Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/3. Structure and genetics of an apolipoprotein E3 variant.
A family has been described in which type III hyperlipoproteinemia is associated with apo E phenotype E3/3 (Havel, R. J., L. Kotite, J. P. Kane, P. Tun, and T. Bersot. 1983. J. Clin. Invest. 72:379-387). In the current study, the structure of apo E from the propositus of this family was determined using both protein and DNA analyses. The propositus is heterozygous for two different apo E allele...
متن کاملFamilial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
A kindred with apolipoprotein E deficiency and a truncated lower molecular weight apoE mutant, designated apoE-3Washington, has been identified. Gel electrophoresis demonstrated complete absence of the normal apoE isoproteins and the presence of a small quantity of a lower molecular weight apoE. Plasma apoE levels in the proband were approximately 4% of normal. This marked deficiency of apoE re...
متن کاملExpression of type III hyperlipoproteinemia in apolipoprotein E2 (Arg158 --> Cys) homozygotes is associated with hyperinsulinemia.
Type III hyperlipoproteinemia (HLP) is mainly found in homozygous carriers of apolipoprotein E2 (apoE2, Arg158-->Cys). Only a small percentage (< 5%) of these apoE2 homozygotes develops hyperlipidemia, indicating that additional environmental and genetic factors contribute to the expression of type III HLP. In the present study, first, the prevalence of type III HLP among apoE2 homozygotes was ...
متن کاملBiophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia
BACKGROUND Apolipoprotein E (apoE) is a major protein of the lipoprotein transport system that plays important roles in lipid homeostasis and protection from atherosclerosis. ApoE is characterized by structural plasticity and thermodynamic instability and can undergo significant structural rearrangements as part of its biological function. Mutations in the 136-150 region of the N-terminal domai...
متن کاملGestational hyperlipidemic pancreatitis caused by type III hyperlipoproteinemia with apolipoprotein E2/E2 homozygote.
To the Editor: Gestational hyperlipidemic pancreatitis is an uncommon but serious disorder. In women having type I, IV, or V hyperlipoproteinemia (HLP), the superimposition of the physiologic hyperlipidemia of pregnancy may lead to acute pancreatitis. Here, we present a case of gestational hyperlipidemic pancreatitis associated with apo E2/E2 homozygous type III HLP. A 39-year-old gravida 3, pa...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1980
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(19)85939-2