A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy
Abstract
We have previously reported an 8-year-old girl with lipoprotein glomerulopathy. Assessment of serum apolipoprotein E (apo E) in this patient showed a discrepancy between phenotype and genotype, suggesting that she may have a variant of apo E. The present report concerns our analysis of DNA sequences of the apo E gene in the patient: nine base pairs were found to be deleted from exon 4. This mutation would appear to encode a new apo E variant lacking three amino acids. This variant may be associated with the pathogenesis of lipoprotein glomerulopathy.
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In LPG, apolipoprotein E variants having 3 amino acid deletions were reported independently as apoE Tokyo (del 141-143) and apoE Maebashi (del 142-144).
“In LPG, apoE variants having 3 amino acid deletions were reported independently as apoE Tokyo (del 141-143) 10) and apoE Maebashi (del 142-144) 11) .”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [11]
The ApoE variant found in the boy and his mother is the same as ApoE Tokyo/Maebashi.
“which was same variant as ApoE Tokyo/Maebashi.”
From A boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review (2025) · cites this paper as [18]
Most of the ApoE mutations in LPG are located at the LDLR binding site and its surrounding region, particularly the HSPG binding domain.
“Most of the mutations are located at the LDLR binding site and its surrounding region, particularly the HSPG binding domain, such as ApoE Tokyo (del 141-143),[17] ApoE Maebashi (del 142-144),[18]”
From A boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review (2025) · cites this paper as [18]
Cites
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APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170 · see citing works
Apolipoprotein E–related glomerular disorders
Saito, T., Matsunaga, A., Fukunaga, M., Nagahama, K., Hara, S., & Muso, E. (2020) · Kidney International · doi:10.1016/j.kint.2019.10.031 · Cited by 77 · see citing works
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Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
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Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
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Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy
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A boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review
Zhang, S., Fan, L., Li, Z., Liu, T., Jing, X., & Guo, Q. (2025) · Medicine · doi:10.1097/md.0000000000041628 · Cited by 2 · see citing works
- Authors
- Ogawa, T., Maruyama, K., Hattori, H., Arai, H., Kondoh, I., Egashira, T., Watanabe, T., Kobayashi, Y., & Morikawa, A.
- Affiliations
- Gunma University (JP)
- BML (Japan) (JP)
- Venue
- Pediatric Nephrology
- Published
- 2000-01-18
- Volume
- 14
- Issue
- 2
- Pages
- 149-151
- ISSN
- 0931-041X (ISSN-L)
- 1432-198X
- OpenAlex
- W2055081283
- Cited by
- 37
- References
- 3
- Citations by year
- 2025: 2 · 2022: 1 · 2021: 2 · 2019: 2 · 2018: 1 · 2016: 1 · 2015: 1 · 2013: 4 · 2012: 1
- FWCI
- 1.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Pediatric Nephrology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- apolipoprotein E, lipoprotein glomerulopathy, exon 4 deletion, genotype-phenotype discrepancy, pediatric glomerulopathy, pathogenesis
- MeSH terms
- Apolipoproteins E, Child, Female, Genotype, Humans, Kidney Diseases, Male, Phenotype, Sequence Analysis, DNA
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