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Nat Rev Cancer. 2003 Mar;3(3):193-202.

A role for mitochondrial enzymes in inherited neoplasia and beyond.

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Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W. 12th Avenue, Ste 690 TMRF, Columbus, Ohio 43210, USA.


Mitochondrial defects have been associated with neurological disorders, as well as cancers. Two ubiquitously expressed mitochondrial enzymes--succinate dehydrogenase (SDH) and fumarate hydratase (FH, fumarase)--catalyse sequential steps in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the genes encoding these enzymes cause predispositions to two types of inherited neoplasia syndromes that do not share any component tumours. Homozygous mutations in the same genes result in severe neurological impairment. Understanding this link between inherited cancer syndromes and neurological disease could provide further insights into the mechanisms by which mitochondrial deficiencies lead to tumour development.

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