Apolipoprotein E-1Harrisburg: a new variant of apolipoprotein E dominantly associated with type III hyperlipoproteinemia.
Abstract
Apolipoprotein E (apoE) is important in the modulation of the catabolism of chylomicron and very low density lipoprotein (VLDL) remnants. ApoE has three major genetically determined isoproteins in plasma, designated apoE-2, apoE-3 and apoE-4, with homozygosity for the allele coding for apoE-2 being associated with dysbetalipoproteinemia or type III hyperlipoproteinemia (HLP). We describe a new variant of apoE, apoE-1Harrisburg, which is, in contrast to apoE-2, dominantly associated with type III HLP. Five of twelve members of the affected kindred are heterozygous for the mutant form of apoE, and four of the five have type III HLP, while the fifth member has dysbetalipoproteinemia on diet therapy. Neuraminidase digestion, which removes charged sialic acid residues, did not alter the electrophoretic position of the apoE-1Harrisburg isoprotein, indicating that the altered charge of apoE-1Harrisburg was not due to sialic acid addition to the apolipoprotein. Cysteamine modification, which adds a positively charged group to cysteine, resulted in a shift of apoE-1Harrisburg from the E-1 to the E-2 isoform position, indicating that there is one cysteine in apoE-1Harrisburg as is the case for apoE-3. These results are consistent with apoE-1Harrisburg originating in the allele for apoE-3 with the mutation leading to a negative two-unit charge shift. The definitive identification of a kindred with an apoE variant, apoE-1Harrisburg, dominantly associated with dysbetalipoproteinemia and t…
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Heterozygosity for apoE3[K146E] with the apoE3 allele results in dominant expression of type III HLP.
“Finally, heterozygosity for the apoE variant apoE3[K146E] with the apoE3 allele resulted in a dominant expression of type III HLP [33], [34], [35].”
From Biophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia (2011) · cites this paper as [33]
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- Authors
- Mann, W. A., Gregg, R. E., Sprecher, D. L., & Brewer, H. B.
- Affiliations
- National Institutes of Health (US)
- University of Cincinnati (US)
- Corresponding author
- Mann, W. Alexander
- Venue
- Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism
- Publisher
- Elsevier BV
- Published
- 1989-10
- Volume
- 1005
- Issue
- 3
- Pages
- 239-244
- ISSN
- 0005-2760 (ISSN-L)
- OpenAlex
- W2082548951
- Cited by
- 75
- References
- 5
- Citations by year
- 2023: 7 · 2022: 2 · 2021: 1 · 2020: 2 · 2017: 1 · 2016: 2 · 2013: 2
- FWCI
- 5.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- apolipoprotein E, type III hyperlipoproteinemia, dysbetalipoproteinemia, cysteine, sialic acid, lipoprotein metabolism, familial hyperlipidemia
- MeSH terms
- Adolescent, Adult, Aged, Apolipoproteins E, Electrophoresis, Polyacrylamide Gel, Female, Humans, Hyperlipoproteinemia Type III, Lipoproteins, VLDL, Male, Middle Aged, Pedigree, Phenotype, Genetic Variation, Electrophoresis, Gel, Two-Dimensional
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