Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. Research Abstract Details 

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Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. Abstract Text:

Hiroshi Yamazaki,Haruka Fujita,Takaaki Gunji,Jun Zhang,Tetsuya Kamataki,John R Cashman,Makiko Shimizu,Hiroshi Yamazaki,Haruka Fujita,Takaaki Gunji,Jun Zhang,Tetsuya Kamataki,John R Cashman,Makiko Shimizu,

The reduced capacity of flavin-containing monooxygenase 3 (FMO3) to N-oxidize trimethylamine (TMA) is believed to cause a metabolic disorder. The aim of this study was to investigate the inter-individual variations of FMO3. Genomic DNA of case subjects that showed only 10-20% of FMO3 metabolic capacity among self-reported trimethylaminuria Japanese volunteers was sequenced. Functional analysis of recombinant FMO3 proteins was also performed. One homozygote for a novel single nucleotide substitution causing a stop codon at Arg500 was observed. The biological parents of this Proband A were heterozygous and showed >90% TMA N-oxygenation metabolic capacity. Another Proband B had the Arg500Stop and Cys197Stop codons. The TMA N-oxygenation metabolic capacities of the father and brother of this Proband B were apparently observed by possessing Arg205Cys mutant that coded for decreased TMA N-oxygenase. Recombinant Arg500Stop FMO3 cDNA expressed in Escherichia coli membranes and a series of highly purified truncation mutants at different positions of the C-terminus of FMO3 showed no detectable functional activity toward typical FMO3 substrates. The results suggest that individuals homozygous for either of the nonsense mutations, Arg500Stop and/or Cys197Stop alleles, in the FMO3 gene can possess abnormal TMA N-oxygenation.

Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. Publishing Authors By Initials

H Yamazaki,H Fujita,T Gunji,J Zhang,T Kamataki,JR Cashman,M Shimizu,H Yamazaki,H Fujita,T Gunji,J Zhang,T Kamataki,JR Cashman,M Shimizu,

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Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Molecular genetics and metabolism

VOLUME: 90

Page Numbers: 58-63

Journal Abbreviation: Mol. Genet. Metab.

ISSN: 1096-7192

DAY: 25

MONTH: 09

YEAR: 2006

Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. Information

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LANGUAGE: eng

NlmUniqueID: 9805456

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Grant and Affiliation Information for Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

AFFILIATION: Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University, Machida, Tokyo 194-8543, Japan. hyamazak@ac.shoyaku.ac.jp

Country: United States

AGENCY: United States NIDDK

GRANT: DK 59618

ACRONYM: DK

MEDLINETA: Mol Genet Metab

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