Serratrice G
Clinique des maladies du système nerveux et de l'appareil locomoteur, CHU de la Timone, Marseille.
Rev Prat. 1993 Apr 1;43(7):868-74.
Mitochondrial diseases are very complex. Their description, recent but still in progress, makes all classifications risky. In the first part of this article we present the original character of mitochondria, which is due to their functional structure aimed to produce energy, the respiratory chain being fundamental for the phosphorylation/oxidation and ATP production processes. Beside Mendelian transmission, mitochondria have their own DNA which codes for proteins that are few but play an essential role; the nuclear DNA probably has a regulatory effect. For these reasons, explorations of mitochondrial functioning, mainly by morphological, biochemical and genetic techniques, are specific. In the second, clinical part, we analyse the whole range of symptoms and syndromes which includes purely muscular lesions, predominantly nervous lesions and multisystemic lesions. Some syndromes can be individualized on a biochemical basis, whereas other are individualized on a genetic basis involving mainly mutations of mitochondrial DNA. Finally, we merely list lesions the origin of which might be mitochondrial but remains unknown.
线粒体疾病非常复杂。对它们的描述虽然为时不久但仍在不断完善之中，这使得所有分类都存在风险。在本文的第一部分，我们介绍了线粒体的独特特征，这归因于其旨在产生能量的功能结构，呼吸链对于磷酸化/氧化和ATP生成过程至关重要。除了孟德尔遗传传递外，线粒体有自己的DNA，它编码的蛋白质数量虽少但发挥着关键作用；核DNA可能具有调节作用。由于这些原因，主要通过形态学、生物化学和遗传学技术对线粒体功能进行的探索具有特殊性。在第二部分临床内容中，我们分析了一系列症状和综合征，包括单纯的肌肉病变、以神经病变为主的病变和多系统病变。一些综合征可根据生化基础进行个体化诊断，而其他一些则根据主要涉及线粒体DNA突变的遗传基础进行个体化诊断。最后，我们仅列出了可能起源于线粒体但原因不明的病变。
