Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies
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 nat...
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2024-11-01
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| author | Antonina Sidoti Rosalia D’Angelo Andrea Castagnetti Elisa Viciani Concetta Scimone Simona Alibrandi Giuseppe Giannini |
| author_facet | Antonina Sidoti Rosalia D’Angelo Andrea Castagnetti Elisa Viciani Concetta Scimone Simona Alibrandi Giuseppe Giannini |
| author_sort | Antonina Sidoti |
| collection | DOAJ |
| description | 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 <i>FMO3</i> 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. |
| format | Article |
| id | doaj-art-44f481888fc24f36afa93f828071386a |
| institution | Kabale University |
| issn | 2079-7737 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biology |
| spelling | doaj-art-44f481888fc24f36afa93f828071386a2024-12-27T14:11:51ZengMDPI AGBiology2079-77372024-11-01131296110.3390/biology13120961Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic StrategiesAntonina Sidoti0Rosalia D’Angelo1Andrea Castagnetti2Elisa Viciani3Concetta Scimone4Simona Alibrandi5Giuseppe Giannini6Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, ItalyDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, ItalyWellmicro Srl, Via Antonio Canova, 30, 40138 Bologna, ItalyWellmicro Srl, Via Antonio Canova, 30, 40138 Bologna, ItalyDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, ItalyDepartment of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, ItalyAlfasigma SpA, Via Pontina, km 30,400, 00071 Rome, ItalyTrimethylaminuria (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 <i>FMO3</i> 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.https://www.mdpi.com/2079-7737/13/12/961trimethylaminuriagut microbiota dysbiosismolecular genetics of FMO3 |
| spellingShingle | Antonina Sidoti Rosalia D’Angelo Andrea Castagnetti Elisa Viciani Concetta Scimone Simona Alibrandi Giuseppe Giannini Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies Biology trimethylaminuria gut microbiota dysbiosis molecular genetics of FMO3 |
| title | Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies |
| title_full | Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies |
| title_fullStr | Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies |
| title_full_unstemmed | Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies |
| title_short | Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies |
| title_sort | exploring trimethylaminuria genetics and molecular mechanisms epidemiology and emerging therapeutic strategies |
| topic | trimethylaminuria gut microbiota dysbiosis molecular genetics of FMO3 |
| url | https://www.mdpi.com/2079-7737/13/12/961 |
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