Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Filipa Ferreira (Author) Other; Sofia Esteves (Author) Other; Ligia S Almeida (Author) Other; Ana Gaspar (Author) Other; Claudia Dias da Costa (Author) Other; Patricia Janeiro (Author) Other; Anabela Bandeira (Author) Other; Esmeralda Martins (Author) Other; Elisa Leao Teles (Author) Other; Paula Garcia (Author) Other; Luisa Azevedo (Author) FCUP; Laura Vilarinho (Author) Other

Journal

Title: Gene

Vol. 527

Pages: 366-370

ISSN: 0378-1119

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 2 Citations

Scientific classification

CORDIS: Natural sciences > Biological sciences > Biology > Genetics

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-006-7AD

DOI: 10.1016/j.gene.2013.05.025

Abstract (EN): Trimethylaminuria (TMAu) or "fish odor syndrome" is a metabolic disorder characterized by the inability to convert malodorous dietarily-derived trimethylamine (TMA) to odorless TMA N-oxide by the flavin-containing monooxygenase 3 (FMO3). Affected individuals unable to complete this reaction exude a "fishy" body odor due to the secretion of TMA in their corporal fluids leading to a variety of psychosocial problems. Interindividual variability in the expression of FMO3 gene may affect drug and foreign chemical metabolism in the liver and other tissues. Therefore, it is important to screen for common TMAu mutations but also extend the search to other genetic variants in order to correlate genotype and disease-associated phenotypes. In this study, 25 Portuguese patients with phenotype suggestive of TMAu were evaluated for molecular screening of the FMO3 gene. Herein, we found 16 variants in the FMO3 coding region, some of which had not been previously documented (Gly38Trp, Asp232Val, Thr307Pro, Ser310Leu). Whenever common variants (Glu158Lys, Glu308Gly) were considered in combination a distinct pattern between the control population and patients was observed, mainly in what concerns the presence of Lys158 and Gly308 in homozygous state. Further studies are necessary to clarify the pathogenicity of novel variants identified in this study, as well as the effect of the common single nucleotide polymorphisms, which may play an important role in disease presentation and/or protective mechanism to xenobiotics drugs or environment. (C) 2013 Published by Elsevier B.V.

Language: English

Type (Professor's evaluation): Scientific