Janssen Rolf J R J, van den Heuvel Lambert P, Smeitink Jan A M
University Medical Center Nijmegen, NCMD, Department of Pediatrics, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
Expert Rev Mol Diagn. 2004 Mar;4(2):143-56. doi: 10.1586/14737159.4.2.143.
The oxidative phosphorylation (OXPHOS) system consists of five multiprotein complexes and two mobile electron carriers embedded in the lipid bilayer of the mitochondrial inner membrane. With the exception of complex II and the mobile carriers, the other parts of the OXPHOS system are under dual genetic control. Due to this bigenomic control, the inheritance of OXPHOS system defects is either maternal, in the case of mitochondrial DNA mutations, autosomal or X-linked, in the case of nuclear gene defects. In this review, our current genetic understanding of OXPHOS system enzyme deficiencies will be summarized, and future directions that the field might take to unravel so-far genetically unresolved OXPHOS system enzyme deficiencies will be described, with special emphasis on complex I biogenesis.
氧化磷酸化（OXPHOS）系统由嵌入线粒体内膜脂质双层的五个多蛋白复合物和两个移动电子载体组成。除了复合物II和移动载体外，OXPHOS系统的其他部分受双重遗传控制。由于这种双基因组控制，OXPHOS系统缺陷的遗传方式，若是线粒体DNA突变则为母系遗传，若是核基因缺陷则为常染色体或X连锁遗传。在本综述中，我们将总结目前对OXPHOS系统酶缺陷的遗传学认识，并描述该领域为阐明迄今在遗传学上尚未解决的OXPHOS系统酶缺陷可能采取的未来方向，特别强调复合物I的生物合成。
