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| NPHS1两种新突变蛋白分子的细胞内分布 | |
| 引用本文： | 秦晓松,郑锐,塚口裕康,土井俊夫.NPHS1两种新突变蛋白分子的细胞内分布[J].肾脏病与透析肾移植杂志,2006,15(5):438-442. |
| 作者姓名： | 秦晓松 郑锐 塚口裕康 土井俊夫 |
| 作者单位： | 1. 中国医科大学附属盛京医院检验科,沈阳,110004 2. 中国医科大学附属第一医院呼吸科 3. 日本德岛大学研究生院生物科学研究所 |
| 摘 要： | 目的：研究NPHS1两种新突变编码蛋白在细胞内的分布与先天性肾病综合征发病机制的关系。方法：构建野生型和两种突变型NPHS1克隆，并转染至COS7细胞内，应用免疫荧光双标记的方法，分别进行细胞内及细胞表面的荧光标记，通过共聚焦显微镜对裂隙膜分子Nephrin在细胞内的分布进行研究。结果：野生型Nephrin表现为细胞内和细胞膜染色模式；V822M和C265R则主要为细胞内内质网染色模式，细胞膜着色几乎缺失。结论：突变的Nephrin蛋白由于错误折叠，不能由内质网被输送至细胞表面，这可能是先天性肾病综合征发病的机制之一。 |
| 关 键 词： | 突变 免疫荧光 蛋白质转运 |
| 收稿时间： | 2006-06-20 |
| 修稿时间： | 2006年6月20日 |
Cellular localization of two novel mutants in NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome |
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| QIN Xiaosong,ZHENG Rui,Tsukaguchi Hiroyasu,Toshio Doi.Cellular localization of two novel mutants in NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome[J].Chinese Journal of Nephrology, Dialysis & Transplantation,2006,15(5):438-442. | |
| Authors: | QIN Xiaosong ZHENG Rui Tsukaguchi Hiroyasu Toshio Doi |
| Institution: | 1 Department of Clinical Laboratory, Shengfing Hospital of China Medical University, Shenyang, 110004 ;2 Deparfmef ofpulmonany medtchne, the 1^st Affiliated Hospital of China Medical University, Shenyang, 110001 3 Department of Clinical Biology and Medicine, Institute of health and bioscience, the University of Tokushima Graduate School, Japan |
| Abstract: | Objective:To study the cellular expression and distribution of V822M and C265R, two novel mutants of NPHS1. Methodology:Two mutants and a wild type of NPHS1 clones were constructed and were transfected to COS7cells. The double immunofluorescence was used to stain membrane and plasma expression of nephrin molecules. A laser scanning confocal microscopy was applied to study the distribution patterns of nephrin. Results:The wild type of nephrin showed a plasma and membrane staining pattern while the expression of V822M and C265R was mainly localized in endoplasmic reticulum, and almost no staining on cell membrane was found. Conclusion:A mutant protein of nephrin is detained in endoplasmic reticulum and cannot reach cell membrane due to its misfolding. |
| Keywords: | NPHS1 |
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