Volume 56, Issue 4, Pages (October 1999)

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Volume 56, Issue 4, Pages 1317-1323 (October 1999) A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy Minoru Ando, Jun Sasaki, Han Hua, Akira Matsunaga, Keiko Uchida, Kensuke Jou, Shinichi Oikawa, Takao Saito, Hiroshi Nihei Kidney International Volume 56, Issue 4, Pages 1317-1323 (October 1999) DOI: 10.1046/j.1523-1755.1999.00677.x Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 1 (A and B) Light microscopy of a glomerulus in the biopsy specimen. Two of the 12 glomeruli in the specimen show global sclerosis. Some nodular lesions with mesangial cell proliferation and the thickening of glomerular basement membrane are found in the remaining glomeruli. Most of the dilated capillary lumina contain pale-staining amorphous thrombi (arrowheads) (PAM staining; A ×200 and B ×400). (C and D) Electron microscopy. Mesangial interposition is observed (arrow in C). The capillary lumen is occupied with lipoprotein thrombi, which consist of vacuoles with various sizes and strata as fingerprints (arrow in D). Some glomerular basement membranes are thickened and ruptured. Electron dense deposits are seen in the subendothelial space and in the basement membrane. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 2 Abdominal computed tomography of the patient on March 1994. The aortic abdominal aneurysm has an intramural thrombus, and its size is approximately 6.7cm in diameter. The true lumen of the aorta is indicated by the arrowheads. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 3 (A) Isoelectric focusing and immunoblot analysis for apo E. Lane 1, apo E2/2; lane 2, apo E3/3; lane 3, apo E4/4; and lane 4, E1/3, a sample of the patient. (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. Lane 1, control subject with an apo E genotype ϵ2/3. Lane 2, the patient with ϵ3/3. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 4 Nucleotide sequence of part of exon 4 of both alleles of the patient. Autosomal fluorescent sequencing was performed using plasmid clones. The normal apo ϵ3 allele containing the sequence between positions 4064 and 4117 coding for 18 amino acids is shown on the upper panel. The 54bp deletion mutant allele is shown on the lower panel. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 5 Nucleotide and amino acid sequences across the 54bp deletion in the mutant allele and the corresponding normal allele. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 6 Polyacrylamide gel electrophoretic pattern of DNA fragments. This PCR resulted in the production of a fragment, 830bp long in normal control. Lane M, marker from a digest of ϕX 174; lane 1, proband (I-1); lane 2, normal control; lane 3, daughter (II-1); lane 4, daughter (II-2). The proband (I-1) and the carrier (II-1) show two DNA fragments, 830 and 776bp long, indicating that the 54bp deletion exists in one of the apo E alleles. Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions

Figure 7 Family tree of the patient with apo E1 (Gln 156-Gly 1730). The proband (I-1) is indicated by the arrow. Symbols are (○) unaffected female (▪ or •) heterozygous for the apo E1 (Gln 156-Gly 173→0). Kidney International 1999 56, 1317-1323DOI: (10.1046/j.1523-1755.1999.00677.x) Copyright © 1999 International Society of Nephrology Terms and Conditions