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 article

295 Citations (Scopus)

Abstract

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
Volume3
Issue number3
DOIs
StatePublished - Mar 2003
Externally publishedYes

Fingerprint

Fumarate Hydratase
Enzymes
Neoplasms
Mutation
Citric Acid Cycle
Succinate Dehydrogenase
Nervous System Diseases
Genes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Cite this

A role for mitochondrial enzymes in inherited neoplasia and beyond. / Eng, Charis; Kiuru, Maija Ht; Fernandez, Magali J.; Aaltonen, Lauri A.

In: Nature Reviews Cancer, Vol. 3, No. 3, 03.2003, p. 193-202.

Research output: Contribution to journalReview article

Eng, Charis ; Kiuru, Maija Ht ; Fernandez, Magali J. ; Aaltonen, Lauri A. / A role for mitochondrial enzymes in inherited neoplasia and beyond. In: Nature Reviews Cancer. 2003 ; Vol. 3, No. 3. pp. 193-202.
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