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Apolipoprotein E Sendai (arginine 145-->proline)
Author(s) -
Shin Oikawa,
Akihiro Matsunaga,
Takao Saito,
Hiroshi Satō,
Takashi Seki,
Kazuto Hoshi,
Kazuki Hayasaka,
Hidetoshi Kotake,
Hirofumi Midorikawa,
A Sekikawa,
Shigeo Hara,
K. Abe,
T. Toyota,
Hisato Jingami,
Harukazu Nakamura,
Jun Sasaki
Publication year - 1997
Publication title -
journal of the american society of nephrology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 4.451
H-Index - 279
eISSN - 1533-3450
pISSN - 1046-6673
DOI - 10.1681/asn.v85820
Subject(s) - missense mutation , arginine , apolipoprotein e , exon , point mutation , apolipoprotein b , chemistry , lipoprotein , mutation , biochemistry , amino acid , microbiology and biotechnology , endocrinology , biology , genetics , medicine , gene , disease , cholesterol
Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in the glomeruli, and increased concentration of plasma apolipoprotein (apo) E. It is believed that a genetic disorder of apo E may be present and associated with the disease. Three patients with LPG were examined in this study. The patients' DNA sequences were analyzed, and a nucleotide G to C point mutation in exon 4 of the apo E gene was confirmed in each patient. This missense mutation denotes amino acid substitution of the proline residue for arginine residue at position 145 of apo E. This variant (apo E Sendai) may cause a marked molecular conformational change of the apo E. These findings suggest that a novel variant is etiologically related to LPG.

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