Bonilla E, Tanji K, Hirano M, Vu T H, DiMauro S, Schon E A
Departments of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Biochim Biophys Acta. 1999 Feb 9;1410(2):171-82. doi: 10.1016/s0005-2728(98)00165-0.
The causes of most neurodegenerative diseases, including sporadic Alzheimer's disease (AD), remain enigmatic. There is, however, increasing evidence implicating mitochondrial dysfunction resulting from deafferentiation of disconnected neural circuits in the pathogenesis of energy deficit in AD. The patterns of reduced expression of both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) encoded genes is consistent with a physiological down-regulation of the mitochondrial respiratory chain in response to reduced neuronal activity. On the other hand, the role(s) of somatic cell or maternally inherited mtDNA mutations in the pathogenesis of mitochondrial dysfunction in AD are still controversial.
包括散发性阿尔茨海默病（AD）在内的大多数神经退行性疾病的病因仍然不明。然而，越来越多的证据表明，在AD能量缺乏的发病机制中，神经回路断开导致的去传入化所引起的线粒体功能障碍与之相关。线粒体DNA（mtDNA）和核DNA（nDNA）编码基因表达降低的模式与线粒体呼吸链因神经元活动减少而发生的生理性下调一致。另一方面，体细胞或母系遗传的mtDNA突变在AD线粒体功能障碍发病机制中的作用仍存在争议。
