title: Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation.
abstract: 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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 676, Hôpital Robert Debré, Paris.
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Brière
authors.forename: Judith
authors.initials: J
authors.lastname: Favier
authors.forename: Anne-Paule
authors.initials: AP
authors.lastname: Gimenez-Roqueplo
authors.forename: Pierre
authors.initials: P
authors.lastname: Rustin
mesh_terms: D000154:Aconitate Hydratase / Q000378:metabolism; D019343:Citric Acid / Q000378:metabolism; D002952:Citric Acid Cycle / Q000502:physiology*; D005649:Fumarate Hydratase / Q000235:genetics / Q000378:metabolism; D016147:Genes, Tumor Suppressor; D006801:Humans; D015394:Molecular Structure; D009369:Neoplasms / Q000503:physiopathology*; D019636:Neurodegenerative Diseases / Q000503:physiopathology; D009490:Neurosecretory Systems / Q000033:anatomy & histology / Q000378:metabolism; D021122:Protein Subunits / Q000235:genetics / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000235:genetics / Q000378:metabolism; D015032:Zinc / Q000378:metabolism
chemical_list: D021122:Protein Subunits; D019343:Citric Acid; D013385:Succinate Dehydrogenase; D005649:Fumarate Hydratase; D000154:Aconitate Hydratase; D015032:Zinc