Journal
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
Volume 291, Issue 6, Pages C1114-C1120Publisher
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/ajpcell.00216.2006
Keywords
mitochondria; fumarase; succinate dehydrogenase; cancer; encephalopathy
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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.
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