Schapira A H
Department of Neuroscience, Royal Free Hospital School of Medicine, London, UK.
Curr Opin Neurobiol. 1993 Oct;3(5):760-7. doi: 10.1016/0959-4388(93)90150-w.
Defects of the mitochondrial respiratory chain and mutations of mitochondrial DNA have now been associated with a wide range of human diseases. The precise pathogenetic mechanisms by which these biochemical abnormalities induce tissue dysfunction are not understood. The identification of a mutation in the proline anticodon and in the 12S RNA genes of mitochondrial DNA are interesting new additions to the catalogue of pathogenetic mutations of this genome. The recent demonstration of nuclear complementation of mitochondrial DNA depletion provides the opportunity to identify nuclear genes involved in mitochondrial DNA replication. The possible role for mitochondrial deficiencies in certain neurodegenerative diseases and in the ageing process have given additional momentum to research in this area. Treatment for the mitochondrial 'cytopathies' remains disappointing and improvement in this area awaits a better understanding of their aetiology.
线粒体呼吸链缺陷和线粒体DNA突变如今已与多种人类疾病相关联。这些生化异常引发组织功能障碍的确切致病机制尚不清楚。线粒体DNA脯氨酸反密码子和12S RNA基因中的突变被鉴定出来，这是该基因组致病突变目录中有趣的新成员。最近关于线粒体DNA耗竭的核互补的证明为鉴定参与线粒体DNA复制的核基因提供了机会。线粒体缺陷在某些神经退行性疾病和衰老过程中可能发挥的作用为该领域的研究增添了新的动力。针对线粒体“细胞病”的治疗仍然令人失望，这一领域的改善有待于对其病因有更深入的了解。
