莱氏病成纤维细胞中丙酮酸脱氢酶的异常激活。
Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.
作者信息
Sorbi S, Blass J P
出版信息
Neurology. 1982 May;32(5):555-8. doi: 10.1212/wnl.32.5.555.
PMID:7200213
Abstract
Incubation with dichloroacetate increased activity of the pyruvate dehydrogenase complex (PDHC) in disrupted fibroblasts from controls but not from two patients with autopsy-proved Leigh disease. These results are consistent with a genetically determined aberration of the regulation of PDHC in this disorder, although further studies are necessary to define the aberration.
摘要
用二氯乙酸孵育可增加来自对照的破碎成纤维细胞中丙酮酸脱氢酶复合体（PDHC）的活性，但来自两名经尸检证实患有 Leigh 病的患者的破碎成纤维细胞中该酶活性未增加。这些结果与该疾病中 PDHC 调节的遗传决定异常一致，尽管需要进一步研究来确定这种异常。
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