Apolipoprotein E deficiency with a depressed mRNA of normal size
Abstract
We studied a 39-year-old man who had palmar xanthomas complicated with marked hyperlipidemia. His serum cholesterol and triglyceride were 2000 and 6300 mg/dl, respectively. Serum apolipoprotein E (apo E) was undetectable in the patient by the methods of single radial immunodiffusion, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and radioimmunoassay. Serum apo E concentrations of his father and sister were low. This evidence is consistent with a diagnosis of familial apo E deficiency. We studied the synthesis of apo E in cultures of peripheral blood monocyte macrophages (M-M cultures) obtained from the patient, and detected no secretion of apo E in the culture medium and no newly synthesized apo E in the cell lysate. There were only trace amounts of apo E mRNA of the M-M cultures and the size of the mRNA appeared the same as normal apo E mRNA, indicating a different mutation of the gene from that of the case reported by Zannis et al. (J. Biol. Chem., 260 (1985) 12891).
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Cases of apoE deficiency have been reported, but none included neurocognitive or retinal function studies.
“Cases of apoE deficiency have been reported,4-9 but none included neurocognitive or retinal function studies.”
From Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function (2014) · cites this paper as [6]
Of the 13 APOE deficiencies, two early studies of complete APOE deficiency only involved analysis at the protein level and the site of mutation was not reported.
“Of these, the two early studies of complete APOE deficiency only involved analysis at the protein level and the site of mutation was not reported30, 31).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [31]
Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes.
“Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes27, 29-40).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [31]
Cites
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
Zannis, V. I., Ordovas, J. M., Cladaras, C., Cole, F. S., Forbes, G., & Schaefer, E. J. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)38808-7 · Cited by 21 · see citing works
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Piedrahita, J. A., Zhang, S. H., Hagaman, J. R., Oliver, P. M., & Maeda, N. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4471 · Cited by 944 · see citing works
Mahley, R. W., Huang, Y., & Rall, S. C. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)32417-2 · Cited by 447 · see citing works
Mak, A. C. Y., Pullinger, C. R., Tang, L. F., Wong, J. S., Deo, R. C., Schwarz, J.-M., Gugliucci, A., Movsesyan, I., Ishida, B. Y., Chu, C., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.2011 · Cited by 96 · see citing works
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
Severe xanthomatosis associated with familial apolipoprotein E deficiency.
Feussner, G. (1996) · Journal of Clinical Pathology · doi:10.1136/jcp.49.12.985 · Cited by 10 · see citing works
Dijck-Brouwer, D. A. J., van Doormaal, J. J., Kema, I. P., Brugman, A. M., Kingma, A. W., & Muskiet, F. A. J. (2005) · Annals of Clinical Biochemistry: International Journal of Laboratory Medicine · doi:10.1258/0004563054255498 · Cited by 9 · see citing works
- Authors
- KUROSAKA, D., TERAMOTO, T., MATSUSHIMA, T., YOKOYAMA, T., YAMADA, A., AIKAWA, T., MIYAMOTO, Y., & KUROKAWA, K.
- Affiliations
- National Sagamihara Hospital (JP)
- The University of Tokyo (JP)
- Corresponding author
- KUROSAKA, D
- Venue
- Atherosclerosis
- Publisher
- Elsevier BV
- Published
- 1991-05
- Volume
- 88
- Issue
- 1
- Pages
- 15-20
- ISSN
- 0021-9150 (ISSN-L)
- OpenAlex
- W2070984401
- Cited by
- 37
- References
- 2
- Citations by year
- 2025: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 1
- FWCI
- 4.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Atherosclerosis (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- 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 deficiency, mRNA size, hyperlipidemia, genetic mutations, serum cholesterol, triglycerides
- MeSH terms
- Adult, Apolipoproteins E, Cells, Cultured, Cholesterol, Electrophoresis, Polyacrylamide Gel, Humans, Hyperlipidemias, Macrophages, Male, RNA, Messenger, Triglycerides
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