Human deafness dystonia syndrome is a mitochondrial disease
Human deafness dystonia syndrome is a mitochondrial disease
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DOI：
10.1073/pnas.96.5.2141
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发表时间：
1999-03-02
影响因子：
11.1
通讯作者：
Schatz, G
中科院分区：
文献类型：
--
作者：
Koehler, CM;Leuenberger, D;Schatz, G
人类耳聋肌张力障碍综合征是由一种未知功能的蛋白质(DDP)突变引起的。我们发现DDP是一种线粒体蛋白，与酵母线粒体膜间隙的5种小蛋白(Tim8p、Tim9p、Tim10p、Tim12p和Tim13p)相似。Tim9p、Tim10p和Tim12p介导代谢物转运体从细胞质进入线粒体内膜，并在结构和功能上与Tim8p和Tim13p相互作用。DDP与Tim8p最为相似。Tim8p与Tim13p和Tim9p以可溶的70 kDa复合体形式存在，Tim8p的缺失与Tim10p的条件性突变是合成致死的。因此，耳聋肌张力障碍综合征是一种新型的线粒体疾病，可能是由线粒体蛋白输入系统缺陷引起的。
The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim12p mediate the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane and interact structurally and functionally with Tim8p and Tim13p. DDP is most similar to Tim8p. Tim8p exists as a soluble 70-kDa complex with Tim13p and Tim9p, and deletion of Tim8p is synthetically lethal with a conditional mutation in Tim10p. The deafness dystonia syndrome thus is a novel type of mitochondrial disease that probably is caused by a defective mitochondrial protein-import system.