title: A mutation in the flavin-containing monooxygenase 3 gene and its effects on catalytic activity for N-oxidation of trimethylamine in vitro.
abstract: To clarify the mutation of the flavin-containing monooxygenase (FMO) 3 gene causing fish-odor syndrome, we analyzed the FMO3 gene of a Thai subject who possibly suffered from fish-odor syndrome. A novel mutation, a single-base substitution from G to A at the position of 265 (G265A), was identified in exon 3. The mutation caused an amino acid substitution from valine to isoleucine at residue 58 (V58I). The mutated FMO3 protein with V58I exhibited the reduced trimethylamine N-oxidase activity when it was expressed in E. coli. The V(max)/K(m) value for the activity of the mutant-type FMO3 was about 5 times lower than that for the wild-type FMO3.
authors.affiliation: Laboratory of Drug Metabolism, Division of Pharmacobio-dynamics, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.
authors.forename: Megumi
authors.initials: M
authors.lastname: Kubota
authors.forename: Yoko
authors.initials: Y
authors.lastname: Nakamoto
authors.forename: Kazuo
authors.initials: K
authors.lastname: Nakayama
authors.forename: Pailin
authors.initials: P
authors.lastname: Ujjin
authors.forename: Soisungwan
authors.initials: S
authors.lastname: Satarug
authors.forename: Taisei
authors.initials: T
authors.lastname: Mushiroda
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Yokoi
authors.forename: Masato
authors.initials: M
authors.lastname: Funayama
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Kamataki