A role for mitochondrial enzymes in inherited neoplasia and beyond

Charis Eng, Maija Ht Kiuru, Magali J. Fernandez, Lauri A. Aaltonen

Research output: Contribution to journalReview articlepeer-review

311 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)193-202
Number of pages10
JournalNature Reviews Cancer
Issue number3
StatePublished - Mar 2003
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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