Rosalia D\u2019Angelo Rosalia D\u2019Angelo, Federica Monastra, Concetta Scimone, Simona Alibrandi, Luigi Donato, Antonina Sidoti<\/p>\n\n\n\n
Abstract<\/strong><\/p>\n\n\n\n Trimethylaminuria, also known as \u201cfish odor syndrome\u201d is an inherited disease characterized by the accumulation, and consequently, by the excretion of trimethylamine which is the compound responsible for the unpleasant odor. Due to this malodorous condition, patients are devastating from a psychosocial perspective being they marginalized in society. The cause of the syndrome is rooted in the dysfunctional metabolism of trimethylamine that can be caused by a dysbiosis related to gut microbiota or by a deficiency in flavin monooxygenase 3 (FMO3), the essential enzyme for the metabolism of trimethylamine. Nowadays there are reliable diagnostic tests based on genetic analysis of FMO3 gene and on the evaluation of trimethylamine concentration measured in the urine. Although there is no therapy, many simple treatment options exist that may drastically improve the quality of life of these patients. In this paper we provide an approach to identify other genes, related to FMO3, possibly involved in the etiopathogenesis of the trimethylaminuria. <\/p>\n\n\n\n References<\/strong><\/strong><\/p>\n\n\n\n 1. Mountain H, Brisbane JM, Hooper AJ, Burnett JR.\nTrimethylaminuria (fish malodour syndrome): a “benign” genetic\ncondition with major psychosocial sequela. Med J 2008;189.<\/p>\n\n\n\n 2. Falony G, Vieira-Silva S, Raes J. Microbiology Meets Big\nData: The Case of Gut Microbiota-Derived Trimethylamine. Annu Rev Microbiol.\n2015;69:305-21.<\/p>\n\n\n\n 3. Gaci N, Borrel G, Tottey W, O’Toole PW, Brug\u00e8re JF.Archaea and the human gut: new beginning of an old story<\/a>. World J Gastroenterol.\n2014;20:16062-78.<\/p>\n\n\n\n 4. Hernandez D, Addou S, Lee D, Orengo C, Shephard EA,\nPhillips IR. Trimethylaminuria and a human FMO3 mutation database. Hum Mutat.\n2003;22:209-13.<\/p>\n\n\n\n 5. Furnes B, Feng J, Sommer SS,\nSchlenk D. Identification of novel variants of the flavin-containing\nmonooxygenase gene family in African Americans. Drug Metab Dispos.\n2003;31:187-93.<\/p>\n\n\n\n 6. Shephard, Elizabeth A; Treacy, Eileen P; Phillips, Ian\nR. Clinical utility gene card for: Trimethylaminuria<\/a>. Eur J Hum Genet. 2015;23.<\/p>\n\n\n\n 7. https:\/\/rarediseases.info.nih.gov\/diseases\/6447\/trimethylaminuria\nLearning About Trimethylaminuria<\/a>. 2016.<\/p>\n\n\n\n 8. Treacy E; Johnson D. Pitt JJ; Danks DM.\nTrimethylaminuria, fish odour syndrome: A new method of detection and response\nto treatment with metronidazole. J Inherit Metab Dis. 1995;18:306-12<\/p>\n\n\n\n 9. Yamazaki H, Fujieda M, Togashi M,Saito T<\/a>, Preti G<\/a>, Cashman JR<\/a>, Kamataki T<\/a>. Effects of the dietary supplements, activated charcoal and\ncopper chlorophyllin, on urinary excretion of trimethylamine in Japanese\ntrimethylaminuria patients. Life Sci 2004;74:2739-47.<\/p>\n\n\n\n 10. GrimsbyJ, Chen K, Wang L-J., Lan N.\nC., Shih J. C. Human monoamine oxidase A and B genes exhibit identical\nexon-intron organization. Proc. Nat. Acad. Sci 1991;88: 3637-3641<\/p>\n\n\n\n 11.Harborne J.B., Smith T. A. Phytochemistry 1992; Volume 31, Issue 3, 729-1092.<\/p>\n\n\n\n 12. Navarro, Lewin G.A Rapid Functional Assay for the Human\nTrace Amine-Associated Receptor 1 Based on the Mobilization of Internal\nCalcium. J Biomol Screen. 2006;11:688-93.<\/p>\n\n\n\n 13. Liberles SD, Buck LB. A second\nclass of chemosensory receptors in the olfactory epithelium. Nature.\n2006;442:645-50.<\/p>\n\n\n\n 14. Xie Z, Westmoreland SV, Miller GM. Modulation of\nmonoamine transporters by common biogenic amines via trace amine-associated\nreceptor 1 and monoamine autoreceptors in human embryonic kidney 293 cells and\nbrain synaptosomes. J Pharmacol Exp Ther. 2008;325:629-40<\/p>\n","protected":false},"excerpt":{"rendered":" Rosalia D\u2019Angelo Rosalia D\u2019Angelo, Federica Monastra, Concetta Scimone, Simona Alibrandi, Luigi Donato, Antonina Sidoti Abstract Trimethylaminuria, also known as \u201cfish odor syndrome\u201d is an inherited<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[20],"tags":[18,17,19,16],"class_list":["post-234","post","type-post","status-publish","format-standard","hentry","category-original-paper","tag-analysis","tag-bioinformatics","tag-causative-genes","tag-tmau"],"_links":{"self":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/234","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/comments?post=234"}],"version-history":[{"count":2,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/234\/revisions"}],"predecessor-version":[{"id":317,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/posts\/234\/revisions\/317"}],"wp:attachment":[{"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/media?parent=234"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/categories?post=234"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.iemest.eu\/life-safety-and-security\/wp-json\/wp\/v2\/tags?post=234"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}