Mitochondria produce the bulk of the energy used by almost all eukaryotic cells through oxidative phosphorylation (OXPHOS) which occurs on the four complexes of the respiratory chain and the F1–F0 ATPase. Mitochondrial diseases are a heterogenous group of conditions affecting OXPHOS, either directly through mutation of genes encoding subunits of OXPHOS complexes, or indirectly through mutations in genes encoding proteins supporting this process. These include proteins that promote assembly of the OXPHOS complexes, the post-translational modification of subunits, insertion of cofactors or indeed subunit synthesis. The latter is important for all 13 of the proteins encoded by human mitochondrial DNA, which are synthesised on mitochondrial ribosomes. Together the five OXPHOS complexes and the mitochondrial ribosome are comprised of more than 160 subunits and many more proteins support their biogenesis. Mutations in both nuclear and mitochondrial genes encoding these proteins have been reported to cause mitochondrial disease, many leading to defective complex assembly with the severity of the assembly defect reflecting the severity of the disease. This review aims to act as an interface between the clinical and basic research underpinning our knowledge of OXPHOS complex and ribosome assembly, and the dysfunction of this process in mitochondrial disease.

中文翻译：

---

强国的停电：与OXPHOS复合物和线粒体组装缺陷相关的临床表型

线粒体通过氧化磷酸化（OXPHOS）产生几乎所有真核细胞所消耗的大部分能量，该氧化磷酸化发生在呼吸链的四个复合体和F1-F0 ATPase上。线粒体疾病是直接影响OXPHOS的一系列异质性疾病，要么直接通过编码OXPHOS复合物亚基的基因突变，要么间接通过编码支持该过程的蛋白质的基因突变。这些包括促进OXPHOS复合物装配，亚基翻译后修饰，辅因子插入或亚基合成的蛋白质。后者对于由人类线粒体DNA编码的所有13种蛋白质都很重要，这些蛋白质是在线粒体核糖体上合成的。五个OXPHOS复合物和线粒体核糖体一起包含160多个亚基，更多蛋白质支持它们的生物发生。据报道，编码这些蛋白质的核基因和线粒体基因中的突变都会引起线粒体疾病，许多导致复杂的组装缺陷，组装缺陷的严重性反映了疾病的严重性。这篇综述的目的是充当临床和基础研究之间的接口，以加强我们对OXPHOS复合物和核糖体装配的了解，以及该过程在线粒体疾病中的功能障碍。许多导致复杂的组装缺陷，而组装缺陷的严重程度反映了疾病的严重程度。这篇综述的目的是充当临床和基础研究之间的接口，以加强我们对OXPHOS复合物和核糖体装配的了解，以及该过程在线粒体疾病中的功能障碍。许多导致复杂的组装缺陷，而组装缺陷的严重程度反映了疾病的严重程度。这篇综述的目的是充当临床和基础研究之间的接口，以加强我们对OXPHOS复合物和核糖体装配的了解，以及该过程在线粒体疾病中的功能障碍。