Brière Jean-Jacques, Favier Judith, Gimenez-Roqueplo Anne-Paule, Rustin Pierre
Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 676, Hôpital Robert Debré, Paris.
Am J Physiol Cell Physiol. 2006 Dec;291(6):C1114-20. doi: 10.1152/ajpcell.00216.2006. Epub 2006 Jun 7.
A renewed interest in tricarboxylic acid cycle enzymopathies has resulted from the report that, in addition to devastating encephalopathies, these can result in various types of tumors in human. We first review the major features of the cycle that may underlie this surprising variety of clinical features. After discussing the rare cases of encephalopathies associated with specific deficiencies of some of the tricarboxylic acid cycle enzyme, we finally examine the mechanism possibly causing tumor/cancer formation in the cases of mutations affecting fumarase or succinate dehydrogenase genes.
三羧酸循环酶病重新引起人们的关注，原因是有报告称，除了会引发严重的脑病外，这些酶病还可能导致人类患上各种类型的肿瘤。我们首先回顾一下该循环的主要特征，这些特征可能是导致这种令人惊讶的多样临床特征的基础。在讨论了与某些三羧酸循环酶的特定缺陷相关的罕见脑病病例后，我们最后研究在影响延胡索酸酶或琥珀酸脱氢酶基因发生突变的情况下，可能导致肿瘤/癌症形成的机制。
