A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy.

Abstract

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.

• Authors: Takehiko Tokura, Seiji Itano, Shinya Kobayashi, Atsunori Kuwabara, Sohachi Fujimoto, Hideyuki Horike, Minoru Satoh, Norio Komai, Naruya Tomita, Akira Matsunaga, Takao Saito, Tamaki Sasaki, Naoki Kashihara
• Journal: Journal of atherosclerosis and thrombosis (J Atheroscler Thromb) Vol. 18 Issue 6 Pg. 536-41 ( 2011) ISSN: 1880-3873 [Electronic] Japan
• PMID: 21467726 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoprotein E2
• DNA

Topics

• Adult
• Amino Acid Substitution
• Apolipoprotein E2 (genetics)
• DNA (genetics)
• Exons (genetics)
• Genotype
• Humans
• Hyperlipoproteinemia Type III (genetics)
• Kidney Diseases (genetics, pathology)
• Kidney Glomerulus (metabolism, pathology)
• Male
• Mutation (genetics)
• Polymerase Chain Reaction