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Article

Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.

Molecules (Basel, Switzerland) - 22 Nov 2021

Alibrandi Simona, Nicita Fabiana, Donato Luigi, Scimone Concetta, Rinaldi Carmela, D'Angelo Rosalia, Sidoti Antonina

Abstract excerpt

BACKGROUND: Trimethylaminuria (TMAU) is a rare genetic disease characterized by the accumulation of trimethylamine (TMA) and its subsequent excretion trough main body fluids, determining the characteristic fish odour in affected patients. We realized an experimental study to investigate the role of several coding variants in the causative gene FMO3, that were only considered as polymorphic or benign, even if the...

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PMID: 34834137
DOI: 10.3390/molecules26227045
PMCID: PMC8618768

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