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

Jun 25, 2013Gene

Genetic types of fish odor syndrome in Portuguese patients

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Circadian Biology on OpenScience ↗PubMed ↗DOI ↗

Abstract

Sixteen variants in the FMO3 gene were identified in 25 Portuguese patients with suspected trimethylaminuria.

Trimethylaminuria is caused by the inability to convert trimethylamine into odorless substances, leading to a characteristic 'fishy' body odor.
The study documented four previously unrecognized genetic variants in the FMO3 gene.
Distinct patterns in the presence of certain common variants were observed between affected individuals and the control population.
The expression of FMO3 gene variants may influence the metabolism of drugs and foreign substances in the body.
Further research is needed to determine the pathogenicity of the newly identified variants and their impact on disease presentation.

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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.

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

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