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- Title
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
- Authors
Treacy, E P; Akerman, B R; Chow, L M; Youil, R; Bibeau, C; Lin, J; Bruce, A G; Knight, M; Danks, D M; Cashman, J R; Forrest, S M
- Abstract
Individuals with the recessive condition trimethylaminuria exhibit variation in metabolic detoxication of xenobiotics by hepatic flavin-containing monooxygenases. We show here that mutations in the human flavin-containing monooxygenase isoform 3 gene ( FMO3 ) impair N -oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype. Three disease-causing mutations in nine Australian-born probands have been identified which share a particular polymorphic haplotype. Nonsense and missense mutations are associated with a severe phenotype and are also implicated in impaired metabolism of other nitrogen- and sulfur-containing substrates including biogenic amines, both clinically and when mutated proteins expressed from cDNA are studied in vitro . These findings illustrate the critical role played by human FMO3 in the metabolism of xenobiotic substrates and endogenous amines.
- Publication
Human molecular genetics, 1998, Vol 7, Issue 5, p839
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/7.5.839