Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology
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DOI：
10.1016/j.mito.2011.08.012
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发表时间：
2011-11-01
期刊：
影响因子：
4.4
通讯作者：
Rodenburg, Richard J. T.
中科院分区：
文献类型：
--
作者：
Jonckheere, An I.;Huigsloot, Merei;Rodenburg, Richard J. T.
我们报道了一例新的TMEM70基因缺失患者成纤维细胞中线粒体网碎裂、肿胀和形状不规则的线粒体脊的部分或完全丢失，可以通过TMEM70基因缺陷的互补来完全恢复。比较基因组学分析预测了TMEM70在线粒体膜内的拓扑结构，这可以通过免疫金标记法实验得到证实，并表明TMEM70基因并不局限于高等多细胞真核细胞。本研究证明复合体V在线粒体脊形态中的作用适用于人类线粒体疾病的病理。(C)2011年Elsevier B.V.和线粒体研究会。版权所有。
We report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion, which could be completely restored by complementation of the TMEM70 genetic defect Comparative genomics analysis predicted the topology of TMEM70 in the inner mitochondrial membrane, which could be confirmed by immunogold labeling experiments, and showed that the TMEM70 gene is not restricted to higher multicellular eukaryotes. This study demonstrates that the role of complex V in mitochondrial cristae morphology applies to human mitochondrial disease pathology. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.