Volume 56, Issue 2, Pages (August 1999)

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Volume 56, Issue 2, Pages 421-427 (August 1999) A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy Akira Matsunaga, Jun Sasaki, Takeo Komatsu, Kazuro Kanatsu, Emiko Tsuji, Kengo Moriyama, Takafumi Koga, Kikuo Arakawa, Shinichi Oikawa, Takao Saito, Toru Kita, Toshio Doi Kidney International Volume 56, Issue 2, Pages 421-427 (August 1999) DOI: 10.1046/j.1523-1755.1999.00572.x Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 1 Light microscopy of the renal biopsy specimen. The capillary lumina are dilated by amorphous thrombi (PAM stain; original magnification ×770). Kidney International 1999 56, 421-427DOI: (10.1046/j.1523-1755.1999.00572.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 2 (A) Isoelectric focusing (IEF) and immunoblot analysis for apo E. Lane 1, apo E2/3; lane 2, apo E3/4; lane 3, E2/4, a sample of the proband. (B) Restriction fragment length polymorphism (RFLP) analysis of the apo E genotype. PCR-amplified DNA of the apo E gene, including codons 112 and 158, was digested with HhaI restriction. The 91 bp fragment (Cys-112) and 48, 35 bp fragments from the cleavage at the HhaI site at Arg-158 showed that the control subject had genotype βegr;3/3 (lane 1). The 91 bp fragment (Cys-112) and 72, 48, and 35 bp fragments from cleavage at the HhaI sites at Arg-112 and Arg-158 showed that the proband had genotype βegr;3/4 (lane 2). Kidney International 1999 56, 421-427DOI: (10.1046/j.1523-1755.1999.00572.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 3 Sequence of part of exon 3 of both alleles of the apo E2 Kyoto propositus. The normal apo E3 allele containing the sequence CGC coding for amino acid 25, arginine, is shown on the left and the mutant allele on the right. Substitution of the apo E2 Kyoto allele, sequence TGC, is indicated by asterisks. Kidney International 1999 56, 421-427DOI: (10.1046/j.1523-1755.1999.00572.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 4 Binding of apo E-dimyristoylphosphatidylcholine (DMPC) complexes to low-density lipoprotein (LDL) receptors. Complexes were prepared from DMPC and recombinant normal apo E3 (○) or apo E2 (Arg25Cys) Kyoto (•). Binding to cultured human skin fibroblasts at 4°C was determined by competition for125I-labeled human LDL for each preparation of complexes. Each point represents the average of triplicate measurements. The error bars correspond to SD. Kidney International 1999 56, 421-427DOI: (10.1046/j.1523-1755.1999.00572.x) Copyright © 1999 International Society of Nephrology Terms and Conditions