DiMauro S
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA.
J Inherit Metab Dis. 1996;19(4):489-503. doi: 10.1007/BF01799110.
In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory-chain defects due to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA-related disorders; (5) ageing and age-related neurodegenerative diseases; (6) therapy; and (7) genetic counselling.
在医学的极少领域中，进展比线粒体疾病领域更为显著，尤其是那些与线粒体DNA（mtDNA）突变相关的疾病。然而，仍有许多工作要做，本简要综述讨论了以下研究领域，这些领域的进展较为有限或数据仍存在争议：（1）由核DNA突变导致的呼吸链缺陷的分子基础；（2）线粒体蛋白质导入缺陷；（3）基因组间信号传导缺陷；（4）与mtDNA相关疾病的病理生理学；（5）衰老及与年龄相关的神经退行性疾病；（6）治疗；以及（7）遗传咨询。
