Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Finland.
Ann Med. 2012 Feb;44(1):41-59. doi: 10.3109/07853890.2011.598547. Epub 2011 Aug 2.
Mitochondria are essential organelles with multiple functions, the most well known being the production of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). The mitochondrial diseases are defined by impairment of OXPHOS. They are a diverse group of diseases that can present in virtually any tissue in either adults or children. Here we review the main molecular mechanisms of mitochondrial diseases, as presently known. A number of disease-causing genetic defects, either in the nuclear genome or in the mitochondria's own genome, mitochondrial DNA (mtDNA), have been identified. The most classical genetic defect causing mitochondrial disease is a mutation in a gene encoding a structural OXPHOS subunit. However, mitochondrial diseases can also arise through impaired mtDNA maintenance, defects in mitochondrial translation factors, and various more indirect mechanisms. The putative consequences of mitochondrial dysfunction on a cellular level are discussed.
线粒体是具有多种功能的重要细胞器，其中最著名的功能是通过氧化磷酸化（OXPHOS）产生三磷酸腺苷（ATP）。线粒体疾病是由 OXPHOS 损伤定义的。它们是一组多样化的疾病，几乎可以在任何组织中发生，无论是成年人还是儿童。在这里，我们回顾了目前已知的线粒体疾病的主要分子机制。已经确定了许多导致线粒体疾病的遗传缺陷，无论是在核基因组还是在线粒体自身的基因组——线粒体 DNA（mtDNA）中。最常见的导致线粒体疾病的遗传缺陷是编码结构 OXPHOS 亚基的基因突变。然而，线粒体疾病也可能是由于 mtDNA 维持受损、线粒体翻译因子缺陷以及各种更间接的机制引起的。讨论了线粒体功能障碍对细胞水平的可能影响。
