Functionally inactive apolipoprotein E3 in a type III hyperlipoproteinaemic patient
Abstract
Abstract. Type III hyperlipoproteinaemia (HLP) is, amongst others, characterized by the E 2/2 phenotype as determined by isoelectric focusing of apolipoprotein E. However, one of our clinically symptomatic type III HLP patients showed a E 3/3 phenotype. After complexation with phospholipid vesicles, apo E from this patient was, in contrast with apo E from a type IV HLP patient (E 3/4 phenotype), unable to compete with low density lipoprotein (LDL) for binding to the specific LDL receptors on cultured human fibroblasts. This defect in binding to the LDL receptor was not due to an impaired lipid binding capability. The clinical symptomatic type III hyperlipoproteinaemia of our patient is probably due to a functionally inactive apo E 3.
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ApoE Leiden is characterized by defective receptor binding.
“In in vitro assays, apoE Leiden is defective in its affinity for the low density lipoprotein (LDL) receptor (6, 11, 14)”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
ApoE Leiden is a rare variant of human apolipoprotein E.
“ApoE Leiden, one of the most thoroughly studied of the rare apoE variants (6, 11, 12)”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
In heterozygotes, apoE Leiden is present in higher concentrations in total plasma than the other apoE allele product.
“In heterozygotes, apoE Leiden is present in higher concentrations in both total plasma and very low density lipoproteins (VLDL) than the other apoE allele product.”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
In heterozygotes, apoE Leiden is present in higher concentrations in VLDL than the other apoE allele product.
“In heterozygotes, apoE Leiden is present in higher concentrations in both total plasma and very low density lipoproteins (VLDL) than the other apoE allele product.”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
Subjects heterozygous for the apoE Leiden mutation show a predominance of the variant apoE over the wild-type protein in total plasma, but especially in the VLDL fraction (4:1 ratio or higher).
“Interestingly, subjects heterozygous for the apoE Leiden mutation show a predominance of the variant apoE over the wild-type protein in total plasma, but especially in the VLDL fraction (4:1 ratio or higher) (6, 11, 12)”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
In in vitro assays, apoE Leiden is defective in its affinity for the LDL receptor, having about 25% of normal apoE3 binding affinity.
“In in vitro assays, apoE Leiden is defective in its affinity for the low density lipoprotein (LDL) receptor (6, 11, 14), having about 25% of normal apoE3 binding affinity.”
From Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma. (1993) · cites this paper as [11]
Apolipoprotein E3-Leiden is a variant of apoE that is associated with dominant expression of type III hyperlipoproteinemia and is defective in binding to the low density lipoprotein receptor.
“Apolipoprotein (apo) E3-Leiden is a variant of apoE that is associated with dominant expression of type III hyperlipoproteinemia and that is defective in binding to the low density lipoprotein receptor.”
From Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121–127 (1989) · cites this paper as [1]
Upon isoelectric focusing, apoE3-Leiden focused in the E3 position.
“Upon isoelectric focusing, apoE3-Leiden focused in the E3 position (Fig. 2), in agreement with previous reports (1, 2).”
From Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121–127 (1989) · cites this paper as [1]
Apolipoprotein E3-Leiden, after being purified and recombined with egg phosphatidylcholine, was defective in binding to LDL receptors on both cultured human fibroblasts and HeLa cells.
“Apolipoprotein E3-Leiden, after being purified and recombined with egg phosphatidylcholine, also was defective in binding to LDL receptors on both cultured human fibroblasts and HeLa cells (1, 2).”
From Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121–127 (1989) · cites this paper as [1]
ApoE3-Leiden·DMPC complexes were defective in binding to LDL receptors on human fibroblasts.
“As shown in Fig. 6, the apoE3-Leiden·dimyristoylphosphatidylcholine (DMPC) complexes were defective in binding to the LDL receptors on human fibroblasts, in agreement with the findings of Havekes and co-workers (1, 2), who used apoE3-Leiden·egg phosphatidylcholine complexes.”
From Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121–127 (1989) · cites this paper as [1]
Cites
Human apolipoprotein E. The complete amino acid sequence
Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1982) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)34702-1 · Cited by 741 · see citing works
Zannis, V. I., & Breslow, J. L. (1981) · Biochemistry · doi:10.1021/bi00507a059 · Cited by 563 · see citing works
Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes
Zannis, V. I., Breslow, J. L., Utermann, G., Mahley, R. W., Weisgraber, K. H., Havel, R. J., Goldstein, J. L., Brown, M. S., Schonfeld, G., Hazzard, W. R., et al. (1982) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38094-9 · Cited by 436 · see citing works
Rall, S. C., Weisgraber, K. H., Innerarity, T. L., & Mahley, R. W. (1982) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.79.15.4696 · Cited by 345 · see citing works
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de Knijff, P., van den Maagdenberg, A. M., Stalenhoef, A. F., Leuven, J. A., Demacker, P. N., Kuyt, L. P., Frants, R. R., & Havekes, L. M. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115349 · Cited by 100 · see citing works
Self-citationWardell, M. R., Weisgraber, K. H., Havekes, L. M., & Rall, S. C. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)30067-5 · Cited by 80 · see citing works
Self-citationFazio, S., Horie, Y., Weisgraber, K., Havekes, L., & Rall, S. (1993) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)40736-9 · Cited by 23 · see citing works
Self-citation
- Authors
- HAVEKES, L. M., LEUVEN, J. A. G., CORVEN, E. V., WIT, E. D., & EMEIS, J. J.
- Affiliations
- Netherlands Organisation for Applied Scientific Research (NL)
- Corresponding author
- HAVEKES, LOUIS M.
- Venue
- European Journal of Clinical Investigation
- Publisher
- Wiley
- Published
- 1984-02
- Volume
- 14
- Issue
- 1
- Pages
- 7-11
- ISSN
- 0014-2972 (ISSN-L)
- 1365-2362
- OpenAlex
- W2118814089
- Cited by
- 31
- References
- 4
- Citations by year
- 2017: 1
- FWCI
- 6.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Clinical Investigation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- apolipoprotein E3, apolipoprotein E phenotype, LDL receptor binding, phospholipid vesicles, low-density lipoprotein
- MeSH terms
- Adult, Apolipoproteins, Apolipoproteins E, Fibroblasts, Humans, Hyperlipoproteinemia Type III, Iodine Radioisotopes, Isoelectric Focusing, Lipoproteins, LDL, Male, Receptors, Cell Surface, Receptors, LDL, Apolipoprotein E3
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