Sorbi S, Bird E D, Blass J P
Ann Neurol. 1983 Jan;13(1):72-8. doi: 10.1002/ana.410130116.
The activity of the pyruvate dehydrogenase complex (PDHC) was reduced in affected areas of brain from patients with Huntington disease (caudate, putamen) and Alzheimer disease (frontal cortex) where choline acetyltransferase (CAT) activity was low. PDHC was also deficient in an area (Huntington hippocampus) where CAT was not significantly reduced. The activity of fumarase, an inner mitochondrial marker, was normal in all areas examined. The activities of PDHC and CAT correlated well in caudate, putamen, and amygdala but not in hippocampus or frontal cortex. Both total activity and activation of PDHC were below normal in fibroblasts from 4 patients with C-21 trisomy Down syndrome, who are at very high risk to develop Alzheimer disease. However, no abnormality of PDHC was detected in Huntington or Alzheimer fibroblasts. Deficiency of PDHC may play a role in the pathophysiology of Huntington and Alzheimer diseases, although it does not appear to be a primary defect. Loss of tissue oxidative capacity may relate to the reduction in cerebral metabolic rate and blood flow which are characteristic of many dementing illnesses.
亨廷顿病患者（尾状核、壳核）和阿尔茨海默病患者（额叶皮质）大脑的患病区域中，胆碱乙酰转移酶（CAT）活性较低，丙酮酸脱氢酶复合体（PDHC）的活性也降低。在CAT未显著降低的一个区域（亨廷顿病患者的海马体）中，PDHC也存在缺陷。在所有检测区域中，线粒体内标记物延胡索酸酶的活性均正常。在尾状核、壳核和杏仁核中，PDHC和CAT的活性相关性良好，但在海马体或额叶皮质中并非如此。4例患有21 - 三体唐氏综合征的患者成纤维细胞中，PDHC的总活性和活性均低于正常水平，这些患者患阿尔茨海默病的风险非常高。然而，在亨廷顿病或阿尔茨海默病患者的成纤维细胞中未检测到PDHC异常。PDHC的缺陷可能在亨廷顿病和阿尔茨海默病的病理生理学中起作用，尽管它似乎不是主要缺陷。组织氧化能力的丧失可能与许多痴呆症所特有的脑代谢率和血流量降低有关。
