Zeviani M, Bonilla E, DeVivo D C, DiMauro S
Department of Neurology, Columbia Presbyterian Medical Center, New York, New York.
Neurol Clin. 1989 Feb;7(1):123-56.
Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects involving: (1) mitochondrial transport; (2) substrate oxidation; (3) Krebs cycle; (4) respiratory chain; and (5) oxidation-phosphorylation coupling. For each biochemical group of disorders, the authors describe clinical presentations and biochemical findings. These disorders are especially interesting from the genetic point of view because mitochondria have their own DNA (mtDNA), which encodes 13 polypeptides, all of them subunits of respiratory chain complexes. Other mitochondrial proteins are encoded by nuclear DNA, synthesized in the cytoplasm, and imported into the mitochondria by a complex mechanism. Because mtDNA is inherited strictly by maternal, cytoplasmic inheritance, mitochondrial diseases can be transmitted by Mendelian or by non-Mendelian, maternal inheritance, as illustrated by human pathology.
在过去十年中，线粒体疾病，尤其是线粒体肌病或脑肌病，已引起越来越多的关注。线粒体脑肌病最初是根据肌肉中的形态学变化（“破碎红纤维”和线粒体超微结构异常）来定义的，现在可以根据涉及的生化缺陷进行分类：（1）线粒体转运；（2）底物氧化；（3）三羧酸循环；（4）呼吸链；以及（5）氧化磷酸化偶联。对于每一类生化紊乱，作者描述了临床表现和生化检查结果。从遗传学角度来看，这些疾病特别有趣，因为线粒体有自己的DNA（mtDNA），它编码13种多肽，所有这些多肽都是呼吸链复合物的亚基。其他线粒体蛋白由核DNA编码，在细胞质中合成，并通过复杂机制导入线粒体。由于mtDNA严格通过母系细胞质遗传，线粒体疾病可以通过孟德尔遗传或非孟德尔母系遗传传递，人类病理学已对此进行了说明。
