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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2013

Autores

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

Revista

Título: Gene

Vol. 527

Páginas: 366-370

ISSN: 0378-1119

Editora: Elsevier

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 2 Citações

Classificação Científica

CORDIS: Ciências Naturais > Ciências biológicas > Biologia > Genética

FOS: Ciências exactas e naturais > Ciências biológicas

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica