错义突变
精氨酸
载脂蛋白E
外显子
点突变
载脂蛋白B
化学
脂蛋白
突变
生物化学
氨基酸
分子生物学
内分泌学
生物
遗传学
内科学
基因
医学
疾病
胆固醇
作者
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
出处
期刊:Journal of The American Society of Nephrology
日期:1997-05-01
卷期号:8 (5): 820-823
被引量:101
摘要
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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