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

J Atheroscler Thromb. 2011;18(6):536-41. doi: 10.5551/jat.8102. Epub 2011 Apr 4.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Apolipoprotein E2
  • DNA