Fluoromethylcarnitine, a novel inhibitor of trimethylamine levels in trimethylaminuria and trimethylamine N-oxide related disorders
Excessive production of trimethylamine (TMA) by the gut microbiota leads to increased concentrations of TMA or trimethylamine N-oxide (TMAO) in the bloodstream, which is associated with health risks. High levels of TMAO have been linked to cardiovascular disease, inflammation and other health problems. In addition, people affected by a genetic deficiency of the liver enzyme FMO3, which oxidises TMA to TMAO, suffer from trimethylaminuria (TMAU), a rare disorder caused by mutations in the Fmo3 gene, in which the body odour resembles that of rotting fish, leading to significant discomfort and social isolation. We report here on (R)-N-fluoromethylcarnitine (FCAR), the first inhibitor of TMA production that acts without altering the microbiome and has favourable pharmacokinetic properties. We also tested FCAR in an animal model of trimethylaminuria (TMAU) using mice with a knock-out for the Fmo3 gene. We observed that FCAR reduced TMA levels in the blood and urine of these mice. No weight loss was observed in the animals, demonstrating the low toxicity of FCAR and making it a potential candidate for clinical development for the treatment of trimethylaminuria (TMAU) and other TMA-related disorders.
Authors
- Elena Cini (ORCID: https://orcid.org/0000-0003-4420-8930)
- Simona Alibrandi (ORCID: https://orcid.org/0000-0003-3569-5394)
- Gianfranco Battistuzzi (ORCID: https://orcid.org/0000-0001-9538-7516)
- Laura Salvini (ORCID: https://orcid.org/0000-0002-2923-8157)
- Giorgia Vinciarelli (ORCID: https://orcid.org/0000-0002-3454-6533)
- G Castello
- Sofia Siciliano (ORCID: https://orcid.org/0000-0003-1112-2540)
- Giuseppe Giannini (ORCID: https://orcid.org/0000-0002-7127-985X)
- Federica Poggialini (ORCID: https://orcid.org/0000-0002-8225-4631)
- Antonina Sidoti
- Elisa Viciani (ORCID: https://orcid.org/0000-0002-2431-8270)
- Andrea Castagnetti (ORCID: https://orcid.org/0000-0001-8131-974X)
- Maurizio Taddei (ORCID: https://orcid.org/0000-0001-8660-7580)
- Chiara Vagaggini (ORCID: https://orcid.org/0000-0002-4208-7760)
- Elena Dreassi (ORCID: https://orcid.org/0000-0001-8987-940X)
Institutions
- University of Siena (IT)
- University of Messina (IT)
- Toscana Life Sciences (IT)
- Sigma Tau (Italy) (IT)
- Alleanza Contro il Cancro (IT)
Publication Details
- Journal
- European Journal of Medicinal Chemistry
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1016/j.ejmech.2025.118073
- Primary Topic
- Gut microbiota and health
- Type
- article
- Field-Weighted Citation Impact
- 0.00