Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4

Gordon J. Hildick-Smith, Jeffrey D. Cooney, Caterina Garone, Laura S. Kremer, Tobias B. Haack, Jonathan N. Thon, Non Miyata, Daniel S. Lieber, Sarah E. Calvo, H. Orhan Akman, Yvette Y. Yien, Nicholas C. Huston, Diana S. Branco, Dhvanit I. Shah, Matthew L. Freedman, Carla M. Koehler, Joseph E. Italiano, Andreas Merkenschlager, Skadi Beblo, Tim M. StromThomas Meitinger, Peter Freisinger, M. Alice Donati, Holger Prokisch, Vamsi K. Mootha, Salvatore DiMauro, Barry H. Paw

研究成果: Contribution to journalArticle査読

28 被引用数 (Scopus)

抄録

We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia.

本文言語英語
ページ(範囲)906-914
ページ数9
ジャーナルAmerican journal of human genetics
93
5
DOI
出版ステータス出版済み - 11 7 2013
外部発表はい

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

フィンガープリント 「Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル