Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow, 119991, Russia.
Biochemistry (Mosc). 2013 Sep;78(9):979-90. doi: 10.1134/S0006297913090034.
Mitochondrial medicine was established more than 50 years ago after discovery of the very first pathology caused by impaired mitochondria. Since then, more than 100 mitochondrial pathologies have been discovered. However, the number may be significantly higher if we interpret the term "mitochondrial medicine" more widely and include in these pathologies not only those determined by the genetic apparatus of the nucleus and mitochondria, but also acquired mitochondrial defects of non-genetic nature. Now the main problems of mitochondriology arise from methodology, this being due to studies of mitochondrial activities under different models and conditions that are far from the functioning of mitochondria in a cell, organ, or organism. Controversial behavior of mitochondria ("friends and foes") to some extent might be explained by their bacterial origin with possible preservation of "egoistic" features peculiar to bacteria. Apparently, for normal mitochondrial functioning it is essential to maintain homeostasis of a number of mitochondrial elements such as mitochondrial DNA structure, membrane potential, and the system of mitochondrial quality control. Abrogation of these elements can cause a number of pathologies that have become subjects of mitochondrial medicine. Some approaches to therapy of mitochondrial pathologies are discussed.
线粒体医学是在发现第一个由线粒体功能障碍引起的病理学 50 多年前建立的。从那时起,已经发现了 100 多种线粒体病理学。然而,如果我们更广泛地解释“线粒体医学”一词,不仅包括由核和线粒体的遗传装置决定的病理学,还包括非遗传性质的获得性线粒体缺陷,那么这个数字可能会显著增加。现在,线粒体学的主要问题出在方法学上,这是由于对不同模型和条件下线粒体活性的研究与线粒体在细胞、器官或生物体中的功能相去甚远。线粒体的矛盾行为(“朋友和敌人”)在某种程度上可以用其细菌起源来解释,可能保留了细菌特有的“自私”特征。显然,为了维持线粒体的正常功能,必须维持线粒体的一些元素的动态平衡,如线粒体 DNA 结构、膜电位和线粒体质量控制体系。这些元素的缺失可能会导致许多成为线粒体医学研究对象的病理学。本文讨论了一些线粒体疾病的治疗方法。