1. Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies.
- Author
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Sidoti, Antonina, D'Angelo, Rosalia, Castagnetti, Andrea, Viciani, Elisa, Scimone, Concetta, Alibrandi, Simona, and Giannini, Giuseppe
- Subjects
MOLECULAR genetics ,GENETIC variation ,GUT microbiome ,THERAPEUTICS ,METABOLIC syndrome ,ODORS - Abstract
Simple Summary: Trimethylaminuria is a very rare and little-known metabolic syndrome. It is caused by the accumulation of a foul-smelling molecule, trimethylamine, which is excreted through biological fluids such as sweat, determining the symptoms in affected patients, which consist of odor emissions similar to rotten fish. TMA accumulation is determined by both genetic and environmental factors, especially gut dysbiosis. Although this syndrome is not physically disabling, patients have significant psychosocial problems which, in extreme cases, lead them to suicide. In this review, we collected the most updated data on the pathology, from diagnostic methods to therapeutics approaches, with the aim of encouraging the scientific community to study this syndrome for which there is still no definitive therapy. Trimethylaminuria (TMAU) is a rare metabolic syndrome caused by the accumulation of trimethylamine in the body, causing odor emissions similar to rotten fish in affected patients. This condition is determined by both genetic and environmental factors, especially gut dysbiosis. The multifactorial nature of this syndrome makes for a complex and multi-level diagnosis. To date, many aspects of this disease are still unclear. Recent research revealed the FMO3 haplotypes' role on the enzyme's catalytic activity. This could explain why patients showing only combined polymorphisms or heterozygous causative variants also manifest the TMAU phenotype. In addition, another research hypothesized that the behavioral disturbances showed by patients may be linked to gut microbiota alterations. Our review considers current knowledge about TMAU, clarifying its molecular aspects, the therapeutic approaches used to limit this condition, and the new therapies that are under study. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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