Smeitink J, van den Heuvel L, DiMauro S
Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
Nat Rev Genet. 2001 May;2(5):342-52. doi: 10.1038/35072063.
The mitochondrial oxidative phosphorylation (OXPHOS) system is the final biochemical pathway in the production of ATP. The OXPHOS system consists of five multiprotein complexes, the individual subunits of which are encoded either by the mitochondrial or by the nuclear genome. Defects in the OXPHOS system result in devastating, mainly multisystem, diseases, and recent years have seen the description of the underlying genetic mutations in mitochondrial and nuclear genes. Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to create relevant animal models.
线粒体氧化磷酸化（OXPHOS）系统是ATP产生过程中的最终生化途径。OXPHOS系统由五个多蛋白复合物组成，其各个亚基由线粒体基因组或核基因组编码。OXPHOS系统的缺陷会导致严重的、主要是多系统的疾病，近年来已经发现了线粒体和核基因中潜在的基因突变。该领域的进展得益于各种基因组计划的进展，以及我们创建相关动物模型能力的提高。
