Iommarini Luisa, Peralta Susana, Torraco Alessandra, Diaz Francisca
Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Via Irnerio 42, 40128 Bologna, Italy.
Department of Neurology, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.
Mitochondrion. 2015 May;22:96-118. doi: 10.1016/j.mito.2015.01.008. Epub 2015 Jan 29.
Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.
线粒体疾病被定义为影响氧化磷酸化系统（OXPHOS）的缺陷。它们的临床表型多种多样，部分原因是OXPHOS系统各组成部分正常功能所需的多种因素。由于我们对疾病致病机制了解不足，这些疾病无法治愈。为了理解人类疾病的机制，近年来已开发出许多小鼠模型。在这里，我们总结了几种线粒体疾病小鼠模型的特征，这些模型与影响线粒体DNA维持、复制、转录、翻译的因素以及其他参与线粒体动力学和质量控制的蛋白质直接相关，这些蛋白质虽不是该系统的固有组成部分，但会影响线粒体OXPHOS功能。我们讨论了这些模型如何有助于我们理解线粒体疾病及其致病机制。
