作者
Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C Cattran, Carmen Avila-Casado, Andrew D Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J Allen, Weibin Zhou, Rannar Airik, Edgar A Otto, Moumita Barua, Mohamed H Al-Hamed, Jameela A Kari, Jonathan Evans, Agnieszka Bierzynska, Moin A Saleem, Detlef Böckenhauer, Robert Kleta, Sherif El Desoky, Duygu O Hacihamdioglu, Faysal Gok, Joseph Washburn, Roger C Wiggins, Murim Choi, Richard P Lifton, Shawn Levy, Zhe Han, Leonardo Salviati, Holger Prokisch, David S Williams, Martin Pollak, Catherine F Clarke, York Pei, Corinne Antignac, Friedhelm Hildebrandt
发表日期
2013/12/2
期刊
The Journal of clinical investigation
卷号
123
期号
12
页码范围
5179-5189
出版商
American Society for Clinical Investigation
简介
Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in …
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S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner… - The Journal of clinical investigation, 2013