氧化磷酸化缺陷的小鼠模型：研究线粒体疾病病理生物学的有力工具。
Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases.
作者信息
Torraco Alessandra, Diaz Francisca, Vempati Uma D, Moraes Carlos T
机构信息
Department of Neurology, University of Miami Miller School of Medicine, 1095 NW 14th Terrace, Miami, FL 33136, USA.
出版信息
Biochim Biophys Acta. 2009 Jan;1793(1):171-80. doi: 10.1016/j.bbamcr.2008.06.003. Epub 2008 Jun 13.
Abstract
Defects in the oxidative phosphorylation system (OXPHOS) are responsible for a group of extremely heterogeneous and pleiotropic pathologies commonly known as mitochondrial diseases. Although many mutations have been found to be responsible for OXPHOS defects, their pathogenetic mechanisms are still poorly understood. An important contribution to investigate the in vivo function of several mitochondrial proteins and their role in mitochondrial dysfunction, has been provided by mouse models. Thanks to their genetic and physiologic similarity to humans, mouse models represent a powerful tool to investigate the impact of pathological mutations on metabolic pathways. In this review we discuss the main mouse models of mitochondrial disease developed, focusing on the ones that directly affect the OXPHOS system.
摘要
氧化磷酸化系统（OXPHOS）缺陷是导致一组极其异质性和多效性疾病的原因，这些疾病通常被称为线粒体疾病。尽管已发现许多突变与OXPHOS缺陷有关，但其致病机制仍知之甚少。小鼠模型为研究几种线粒体蛋白的体内功能及其在线粒体功能障碍中的作用做出了重要贡献。由于小鼠在基因和生理上与人类相似，因此小鼠模型是研究病理突变对代谢途径影响的有力工具。在这篇综述中，我们讨论了已建立的主要线粒体疾病小鼠模型，重点关注那些直接影响OXPHOS系统的模型。
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