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ID 52739
フルテキストURL
著者
Miyai, Takayuki Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Pediat
Aya, Kunihiko Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Pediat
Takaiwa, Masanori Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Pediat
Yan, Kunimasa Kyorin Univ, Sch Med, Dept Pediat
Sado, Yoshikazu Shigei Med Res Inst, Div Immunol
Tanaka, Hiroyuki Okayama Saiseikai Gen Hosp, Dept Pediat
Morishima, Tsuneo Okayama Univ, Grad Sch Med Dent & Pharmaceut Sci, Dept Pediat
抄録
Background: Many mutations in the NPHS1 gene were detected among patients with congenital nephrotic syndrome. Functional analysis of those mutations was done with a stable-expression cell line. Nevertheless, establishing such a cell line is time-consuming. Methods and Results: We established an easier method using automatic counting software for functional analysis with transient-transfection cells rather than a stable-expression cell line. We demonstrated maltrafficking to the plasma membrane of abnormal nephrin for immunostaining on transient-expression cells by comparison without Triton X (detecting proteins on the cell membrane only) and with Triton X (detecting proteins both on the cell membrane and inside the cell cytoplasm). We obtained relevant results with data obtained previously using a stable-expression cell line. Furthermore, we conducted functional analysis of NPHS1 mutations in Japanese patients with congenital nephrotic syndrome using this simple method, which revealed that all pathogenic mutations impaired trafficking to the protein plasma membrane. Conclusions: Functional analysis using transient-expression cells with automatic counting software was useful to demonstrate maltrafficking to the plasma membrane of a protein. All pathogenic mutations detected in Japanese patients impaired trafficking to the protein plasma membrane.
キーワード
Congenital nephrotic syndrome
Nephrin
Podocin
Trafficking
Transient transfection
発行日
2014-02
出版物タイトル
Histology and Histopathology
29巻
2号
開始ページ
279
終了ページ
284
ISSN
0213-3911
資料タイプ
学術雑誌論文
オフィシャル URL
http://www.hh.um.es/Abstracts/Vol_29/29_2/29_2_279.htm
関連URL
http://ousar.lib.okayama-u.ac.jp/metadata/52505
言語
English
著作権者
© Servicio de Publicaciones, Universidad de Murcia, 2013
論文のバージョン
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査読
有り
Web of Sience KeyUT