A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy
Open accessAbstract
Lipoprotein glomerulopathy (LPG) is a rare glomerulopathy caused by lipoprotein thrombi. In almost all cases of LPG, several apolipoprotein (apo) E mutations were reported. Here, we present a case of LPG caused by a novel mutation that we named ApoE2 Kurashiki, which substitutes arginine with proline at apoE codon 158. ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. ApoE2 Kurashiki substitutes at the same codon and cannot be distinguished from common apoE2 by stan-dard apoE genotyping or phenotyping.
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Only five cases harboring the Osaka/Kurashiki APOE variant have been described so far.
“Only five cases harboring the Osaka/Kurashaki variant have been described so far (Table 2) [8–11].”
From Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America (2021) · cites this paper as [9]
The Results and Case Presentation describe one patient with the newly identified ApoE2 Kurashiki (R158P) variant. The paper does not establish that five cases of the Osaka/Kurashiki variant had been described, so it supports the existence of a case but not the claimed total. (LLM, conf=0.86)
Experimental — accuracy not yet measuredMany cases have showed that intensive lipid-lowering treatment including fibrate for under 100 mg/dL of serum triglyceride could significantly reduce proteinuria and achieve clinical remission.
“Many cases in our previous work and others have showed that intensive lipid-lowering treatment including fibrate for under 100 mg/dL of serum triglyceride could significantly reduce proteinuria and achieve clinical remission1, 13, 17, 21–23).”
From The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy (2018) · cites this paper as [13]
The Results report that one patient with lipoprotein glomerulopathy received bezafibrate and had complete remission on urinalysis after six months; the Discussion likewise reports remission after fibrate therapy. This supports the treatment-and-remission part of the claim, but the paper does not establish an under-100 mg/dL triglyceride target or show that many cases achieved this outcome. (LLM, conf=0.86)
Experimental — accuracy not yet measuredTwo independent reports in this issue describe LPG cases with the same novel apolipoprotein E variant, apoE2 (Arg158Pro).
“In this issue, cases of LPG with the same novel variant, apoE2 (Arg158Pro), are published independently”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [6]
The Results (page unavailable) identify this paper as a report of an LPG case with the novel apoE2 (Arg158Pro) variant. Our copy does not identify a second independent report of the same variant or establish that both appeared in the same issue. (LLM, conf=0.83)
Experimental — accuracy not yet measuredPatients with LPG and mild hyperlipidemia have been reported clinically.
“patients with LPG and mild hyperlipidemia have been reported clinically [5, 15].”
From Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice (2021) · cites this paper as [5]
Until now, out of 45 cases diagnosed as LPG in Japan, there is only one with APOE Tsukuba and two with APOE Osaka/Kurashiki in which the ranges of apo E are normal.
“Until now, out of 45 cases diagnosed as LPG in Japan, there is only one with APOE Tsukuba [7] and two with APOE Osaka/Kurashiki [8,9] in which the ranges of apo E are normal.”
From Lipoprotein glomerulopathy with a novel apolipoprotein E variant, APOE Kanto (Asp 151dup) (2024) · cites this paper as [9]
LPG patients with normal serum apoE levels have been reported previously, although these levels in LPG are usually two or three times higher than the normal range.
“Actually, LPG patients with normal serum apoE levels have been reported previously13, 14, 17), although these levels in LPG are usually two or three times higher than the normal range.”
From The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy (2018) · cites this paper as [13]
The proline substitution associated with LPG is at position 158.
“the substitution of proline as-sociated with LPG was found at position 158”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [6]
The variants in the two reports are called apoE Osaka and apoE Kurashiki, respectively.
“and the variants are called apoE Osaka and apoE Kurashiki, respectively 5,6) .”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [6]
Asymptomatic carriers of APOE mutations have been identified, and not all mice harboring the apoE-Sendai variant developed LPG, suggesting other factors may play a role in the disease.
“Asymptomatic carriers of APOE mutations have been identified, however, and not all mice harboring the apoE-Sendai variant developed LPG, suggesting that other factors may also play a role in the disease [9].”
From Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America (2021) · cites this paper as [9]
The Discussion reports that ApoE-Sendai induced LPG in apoE-knockout mice, but gives no indication that some mice carrying it did not develop the disease. The Case Presentation describes a patient with LPG, not an asymptomatic mutation carrier. Searches for unaffected carriers, incomplete penetrance, and additional factors found no passage establishing the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measuredThe patients in the two reports were not relatives and lived 130 km apart.
“Patients in both reports were not relatives and the distance between their homes was 130 km”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [6]
The Case Presentation describes one patient and says he had no family history of kidney or hereditary disease. Neither it nor the Discussion states whether patients in two reports were related or gives a 130 km distance between their homes. Searches for those details found no supporting passage in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measured
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Cites
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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
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Self-citationIdentification of a founder haplotype of <i>APOE Kyoto</i> variant in lipoprotein glomerulopathy
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- Authors
- Tokura, T., Itano, S., Kobayashi, S., Kuwabara, A., Fujimoto, S., Horike, H., Satoh, M., Komai, N., Tomita, N., Matsunaga, A., Saito, T., Sasaki, T., & Kashihara, N.
- Affiliations
- Kawasaki Medical School (JP)
- Fukuoka University (JP)
- Venue
- Journal of Atherosclerosis and Thrombosis
- Publisher
- Japan Atherosclerosis Society
- Published
- 2011
- Volume
- 18
- Issue
- 6
- Pages
- 536-541
- ISSN
- 1340-3478 (ISSN-L)
- 1880-3873
- OpenAlex
- W2011052614
- Cited by
- 28
- References
- 3
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 3 · 2021: 5 · 2019: 3 · 2018: 1 · 2016: 1 · 2015: 2 · 2014: 5 · 2013: 3 · 2012: 1
- FWCI
- 2.48
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc-sa
- Locations
- Journal of Atherosclerosis and Thrombosis (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- Funders
- Ministry of Education, Culture, Sports, Science and Technology (21591049)
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science (21591047, 23591209)
- 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
- lipoprotein glomerulopathy, apolipoprotein E, type III hyperlipoproteinemia, APOE genotyping, glomerular disease
- MeSH terms
- Adult, DNA, Exons, Genotype, Humans, Hyperlipoproteinemia Type III, Kidney Diseases, Kidney Glomerulus, Male, Mutation, Polymerase Chain Reaction, Amino Acid Substitution, Apolipoprotein E2
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