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Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation Briere JJ; Favier J; Gimenez-Roqueplo AP; Rustin PAm J Physiol Cell Physiol 2006[Dec]; 291 (6): C1114-20A 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.|Aconitate Hydratase/metabolism[MESH]|Citric Acid Cycle/*physiology[MESH]|Citric Acid/metabolism[MESH]|Fumarate Hydratase/genetics/metabolism[MESH]|Genes, Tumor Suppressor[MESH]|Humans[MESH]|Molecular Structure[MESH]|Neoplasms/*physiopathology[MESH]|Neurodegenerative Diseases/physiopathology[MESH]|Neurosecretory Systems/anatomy & histology/metabolism[MESH]|Protein Subunits/genetics/metabolism[MESH]|Succinate Dehydrogenase/genetics/metabolism[MESH]|Zinc/metabolism[MESH] |
