Idenitification and characterization of a new variant of apolipoprotein E (apo E-Kochi).
Open accessAbstract
A new variant of apolipoprotein E (apo E), named apo E-Kochi, was identified in the sera of a 29-year-old male with hyperlipoproteinemia as characterized by a broad-beta band. The characteristic double bands of apo E were seen in the isoelectric focusing gel of very low density lipoprotein from the proband and three members of his family. Of the double bands from the probands, the more cationic component was identical to ordinary apo E3 and the other anionic band was located at approximately a distance of one-half charge to the anode side. This anionic band is a new electrophoretical isoform of apo E (apo E-Kochi), and the molecular weight by sodium dodecyl sulfate electrophoresis and its antigenicity against anti apo E serum are the same as apo E3. Sequence analysis of lysyl endopeptidase fragments showed that apo E-Kochi differs from normal apo E3 at residue 145, where an arginine residue is substituted for histidine.
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APOE3 Kochi (Arg145His) was reported to exhibit type III HLP, but this was not a highly penetrant dominant trait.
“Moreover, APOE3 Kochi (Arg145His) was reported to exhibit type III HLP, but this was not a highly penetrant dominant trait61, 62).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [61]
The Discussion identifies apo E-Kochi as an Arg145His variant and reports type III hyperlipoproteinemia-like findings, but says a firm conclusion about the proband’s phenotype is difficult because the VLDL cholesterol/triglyceride ratio was below the cited type III standard. It also reports an unaffected uncle who carried the variant, supporting the claim that hyperlipoproteinemia was not a highly penetrant dominant trait. (LLM, conf=0.86)
Experimental — accuracy not yet measuredSome APOE3 Kochi (Arg145His) carriers have also been reported to have normal lipid levels or hypertriglyceridemia.
“Some APOE3 Kochi (Arg145His) carriers have also been reported to have normal lipid levels or hypertriglyceridemia.”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [61]
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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
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Proposed nomenclature of apoE isoproteins, apoE genotypes, and phenotypes
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The receptor-binding domain of human apolipoprotein E. Binding of apolipoprotein E fragments.
Innerarity, T. L., Friedlander, E. J., Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1983) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)44180-9 · Cited by 276 · see citing works
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Analysis of Apolipoprotein E5 Gene from a Patient with Hyperlipoproteinemia1
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Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
Matsunaga, A., & Saito, T. (2025) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.65393 · Cited by 14 · see citing works
- Authors
- SUEHIRO, T., YOSHIDA, K., YAMANO, T., & OHNO, F.
- Affiliations
- Kōchi University (JP)
- Venue
- Japanese Journal of Medicine
- Published
- 1990
- Volume
- 29
- Issue
- 6
- Pages
- 587-594
- ISSN
- 0021-5120 (ISSN-L)
- 1881-123X
- OpenAlex
- W2062089093
- Cited by
- 17
- References
- 7
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2022: 1 · 2017: 1 · 2016: 1 · 2015: 1 · 2013: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Japanese Journal of Medicine (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 E, hyperlipoproteinemia, VLDL, isoelectric focusing, amino acid substitutions, familial hyperlipidemia
- MeSH terms
- Adult, Amino Acid Sequence, Apolipoproteins, Apolipoproteins E, Chromatography, High Pressure Liquid, Diagnosis, Differential, Humans, Hyperlipoproteinemias, Hyperlipoproteinemia Type III, Isoelectric Focusing, Lipids, Male, Molecular Sequence Data, Pedigree, Phenotype, Genetic Variation, Apolipoprotein E3
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