Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-defticient patients revealed five mutations
Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-defticient patients revealed five mutations
复制标题
DOI：
10.1177/08830738060210062501
复制
发表时间：
2006-06-01
影响因子：
1.9
通讯作者：
van den Heuvel, Lambert P.
中科院分区：
文献类型：
--
作者：
Coenen, Marieke J. H.;Smeitink, Jan A. M.;van den Heuvel, Lambert P.
线粒体氧化磷酸化系统由5个多蛋白复合体组成。该系统的第四个复合体，细胞色素c氧化酶(复合体IV)，由13个亚基组成：3个由线粒体DNA编码，10个由核基因组编码。患有孤立的复合体IV缺陷的患者经常在核基因中存在突变，这些基因编码的蛋白质是组装复合体所必需的。值得注意的是，到目前为止，还没有在这些患者中检测到复合体IV的核编码结构亚基突变。我们报告了对孤立的复合体IV缺乏症患者进行突变分析研究的结果，该研究筛选了所有结构基因以及已知的导致复合体IV缺乏症的组装基因的突变。4名患者携带复合体IV组装基因SURF1突变。一名患者携带与血红素A合成有关的COX10基因突变。10个核编码的结构基因没有突变。
The mitochondrial oxidative phosphorylation system is composed of five multiprotein complexes. The fourth complex of this system, cytochrome c oxidase (complex IV), consists of 13 subunits: 3 encoded by mitochondrial DNA and 10 encoded by the nuclear genome. Patients with an isolated complex IV deficiency frequently harbor mutations in nuclear genes encoding for proteins necessary for the assembly of the complex. Strikingly, until now, no mutations have been detected in the nuclear encoded structural subunits of complex IV in these patients. We report the results of a mutational analysis study in patients with isolated complex IV deficiency screened for mutations in all structural genes as well as assembly genes known to cause complex IV deficiency. Four patients carried mutations in the complex IV assembly gene SURF1. One patient harbored a mutation in the COX10 gene involved in heme A synthesis. Mutations in the 10 nuclear encoded structural genes were not present.