Cooper J M, Mann V M, Krige D, Schapira A H
Department of Neuroscience, Royal Free Hospital School of Medicine, London, UK.
Biochim Biophys Acta. 1992 Jul 17;1101(2):198-203. doi: 10.1016/s0005-2728(05)80019-2.
In humans, complex I dysfunction has been observed in a high percentage of patients with mitochondrial myopathy. Analysis of mitochondria from these patients suggests the function and assembly of complex I is particularly susceptible to abnormalities of mitochondrial DNA, involving either point mutations of tRNA genes or major deletions. The evidence for a complex I defect in Parkinson's disease is accumulating, although the cause of this deficiency or the role it plays in the events that culminate in dopaminergic cell death remains unresolved.
在人类中，已在高比例的线粒体肌病患者中观察到复合体I功能障碍。对这些患者的线粒体分析表明，复合体I的功能和组装特别容易受到线粒体DNA异常的影响，这些异常涉及tRNA基因的点突变或大片段缺失。帕金森病中复合体I缺陷的证据正在积累，尽管这种缺陷的原因或其在导致多巴胺能细胞死亡的事件中所起的作用仍未明确。
