Analysis of apo E-gene abnormality in lipoprotein glomerulopathy

脂蛋白肾小球病apo E基因异常分析

• 批准号: 07671101
• 负责人: OIKAWA Shinichi
• 金额: $ 1.41万
• 依托单位: Tohoku University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 1995
• 资助国家: 日本
• 起止时间: 1995 至 1996
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-07671101/
• 关键词: Lipoprotein glomerulopathy; apo E Sendai; アポ E Sendai; アポ蛋白E; アポE2Sendai

Lipoprotein glomerulopathy (LPG) is a rare renal disease characterized by proteinuria, lipoprotein thrombi in the glomeruli and increased concentration of plasma apolipoprotein E^<1.2)>. We analyzed apo E abnormality in 6 patients of LPG from 5 families. We found a new variant of apolipoprotein E (E Sendai) with a proline residue substituted for an arginine residue at position 145. All patients were heterozygous for this variant. The 4 carriers of apo E Sendai were found in KO and MI families. One of them was treated for chronic renal failure. The histological examination had not been done, and the diagnosis was not clarified. Our results suggest that apo E Sendai may be etiologically related to lipoprotein glomerulopathy.

脂蛋白肾小球病变(LPG)是一种罕见的肾脏疾病，以蛋白尿、肾小球内脂蛋白血栓和血浆载脂蛋白浓度升高为特征。对来自5个家系的6例LPG患者的载脂蛋白E异常进行分析。我们发现了载脂蛋白E(E仙台)的一个新的变异体，在145位用一个脯氨酸残基取代了一个精氨酸残基。所有患者都是该变异的杂合子。在KO和MI家系中发现了4名载脂蛋白E仙台携带者。其中一人因慢性肾功能衰竭而接受治疗。没有进行组织学检查，诊断也没有明确。我们的结果提示，载脂蛋白E仙台可能与脂蛋白肾小球疾病有关。

项目成果

Oikawa S,Suzuki N,Sakuma E,Saito T,Namai K,Kotake H,Fuji Y,Toyota T: "Abnormal lipoprotein and apolipoprotein pattern in lipoprotein glomerulopathy." Am J Kid Dis. 18. 553-558 (1991)

Oikawa S、Suzuki N、Sakuma E、Saito T、Namai K、Kotake H、Fuji Y、Toyota T：“脂蛋白肾小球病中的异常脂蛋白和载脂蛋白模式。”