Familial hyperlipoproteinemia type III: Deficiency of a specific apolipoprotein (APO E‐III) in the very‐low‐density lipoproteins

Utermann, Gerd; Jaeschke, M; Menzel, J

doi:10.1016/0014-5793(75)81125-2

Cited by 324 publications

(84 citation statements)

References 16 publications

(2 reference statements)

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“…The homozygosis for ε2 is crucial for the development of familial hyperlipoproteinemia type III (FH III), a disorder of lipid metabolism manifested by premature atherosclerosis 5,18,31,32 , which was historically the first disease linked to the polymorphism of ApoE (ref. 33 ). However, the disease developes only under certain conditions, as is hyperinsulinemia, excessive caloric intake or male sex, while most of ε2/ε2 homozygotes remain normolipidemic or hypolipidemic 18,34 .…”

Section: Discussionmentioning

confidence: 99%

Apolipoprotein E polymorphism is associated with both number of diseased vessels and extent of coronary artery disease in Czech patients with CAD

Máchal¹,

Vašků²,

Hlinomaz³

et al. 2012

BIOMED PAP

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Aims. The impact of ApoE polymorphism on angiographic parameters was assessed in patients referred for coronary angiography. Methods. Elective coronary angiography was performed in 671 subjects (525 men, 146 women, mean age 60±10 years) with symptoms of ischemic heart disease. The patients were divided into: no CAD group (smooth coronary vessels, n=83), one-vessel (n=155), two-vessel (n=170) and three-vessel disease (n=196). Patients with stenoses 0-50% were excluded. Within patients with CAD, we evaluated overall extent of CAD measured by the number of stenotic segments according to AHA (1 segment vs. 2-3 vs. ≥4), and the severity of the most serious stenosis (in percent). ApoE genotype was determined using real-time PCR. Results. The frequency of ε2/ε3 genotype (n=56) was lower in the three-vessel disease group compared to one-vessel disease (OR=0.25, P=0.0019), two-vessel disease (OR=0.31, P=0.0114) or no CAD group (OR=0.24, P=0.0057). Frequency of ε2/ε3 decreased with the number of affected segments (1 vs. ≥4: OR=0.35, P=0.0143). The ε3/ε4+ε4/ε4 genotypes (n=123) were more frequent in CAD patients altogether compared with no CAD group (OR=2.30, P=0.019), while no impact of the ε4 allele on angiographic parameters within the CAD patients was detected. In ε2/ε3 carriers with CAD, lower LDL-cholesterol, total cholesterol and lower use of lipid-lowering drugs were observed. Conclusions. The results show predominantly focal form of CAD in patients with ε2/ε3 genotype. Lower LDL-cholesterol and total cholesterol may play the key role, although other contributing factors are discussed.

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Section: Discussionmentioning

confidence: 99%

Apolipoprotein E polymorphism is associated with both number of diseased vessels and extent of coronary artery disease in Czech patients with CAD

Máchal¹,

Vašků²,

Hlinomaz³

et al. 2012

BIOMED PAP

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“…The equilibrium constants for monomer-tetramer (K 1,4 ) and monomer-octamer (K 1,8 ) are larger for apoE4 in comparison to apoE3 (Table II), indicating that apoE4 oligomers are more stable. This is consistent with the results from the sedimentation velocity analysis, which also demonstrate that the higher oligomers of apoE4, particularly octamer (s Ϸ 10 S), are relatively more abundant in the c(s) distribution compared with apoE3 (Figs.…”

Section: Table II Sedimentation Equilibrium Modeling Of Apoe3 and Apomentioning

confidence: 99%

Self-association of Human Apolipoprotein E3 and E4 in the Presence and Absence of Phospholipid

Perugini¹,

Schuck²,

Howlett³

2000

Journal of Biological Chemistry

111

112

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Human apolipoprotein E (apoE) exists as three main isoforms, differing by single amino acid substitutions, with the apoE4 isoform strongly linked to the incidence of late onset Alzheimer's disease. We have expressed and purified apoE3 and apoE4 from Escherichia coli and compared their hydrodynamic properties by gel permeation liquid chromatography, capillary electrophoresis, circular dichroism, and sedimentation methods. Sedimentation velocity experiments, employing a new method for determining the size distribution of polydisperse macromolecules in solution (Schuck, P. (2000) Biophys. J. 78, 1606 -1619), provide direct evidence for the heterogeneous solution structures of apoE3 and apoE4. In a lipid-free environment, apoE3 and apoE4 exist as a slow equilibrium mixture of monomer, tetramer, octamer, and a small proportion of higher oligomers. Both sedimentation velocity and equilibrium experiments indicate that apoE4 has a greater propensity to self-associate. We also demonstrate that apoE3 and apoE4 oligomers dissociate significantly in the presence of dihexanoylphosphatidylcholine micelles (20 mM) and to a lesser extent at submicellar concentrations (4 mM). The ␣-helical content for both isoforms was almost identical (50%) in the presence and absence of dihexanoylphosphatidylcholine. These results reveal that apoE oligomers undergo phospholipid-induced dissociation to folded monomers, suggesting the monomeric form prevails on the lipoprotein surface in vivo.

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“…' The presence of several polymorphie forms of apoE has been reported in both the human ( 85 ) and rat ( 86 ). Ihe rea'son ' " ' -0 for, and the significance of this microhetero~ene;ty is not known, but the absence of one of the po1ymorphs ( apoE-3') has been reported in patients~ with ~amilia1 hypercholesteronemia ( 85 ).…”

mentioning

confidence: 99%

The catabolism of human and rat very low density lipoproteins by perfused rat hearts

Dory¹,

Pocock²,

Rubinstein³

1978

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metaboli

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Familial hyperlipoproteinemia type III: Deficiency of a specific apolipoprotein (APO E‐III) in the very‐low‐density lipoproteins

Cited by 324 publications

References 16 publications

Apolipoprotein E polymorphism is associated with both number of diseased vessels and extent of coronary artery disease in Czech patients with CAD

Apolipoprotein E polymorphism is associated with both number of diseased vessels and extent of coronary artery disease in Czech patients with CAD

Self-association of Human Apolipoprotein E3 and E4 in the Presence and Absence of Phospholipid

The catabolism of human and rat very low density lipoproteins by perfused rat hearts

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