𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trimethylaminuria and a human FMO3 mutation database

✍ Scribed by Diana Hernandez; Sarah Addou; David Lee; Christine Orengo; Elizabeth A. Shephard; Ian R. Phillips

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
133 KB
Volume
22
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Richard G.H. Cotton

Trimethylaminuria (TMAuria), or fish-odor syndrome, is due to defective flavin-containing monooxygenase 3 (FMO3). In the liver, this protein catalyzes the NADPH-dependent oxidative metabolism of odorous trimethylamine (TMA), derived in the gut from dietary sources, to nonodorous trimethylamine N-oxide (TMA N-oxide). Affected individuals are unable to carry out this reaction and consequently exude a fishy body odor, due to the secretion of TMA in their breath and sweat and its excretion in their urine. This leads to a variety of psychosocial problems, including disruption of schooling, clinical depression, and attempted suicide. Twelve missense, three nonsense, and one gross deletion mutation are known to cause TMAuria. FMO3 is also a drugmetabolizing enzyme and compromised activity is expected to have implications for the efficacy of drug treatment and the possibility of adverse drug reactions both in TMAuric patients and in the general population.

To date eight polymorphic variants, not associated with TMAuria, have been reported. A human FMO3 mutation database was created using MuStar, a locus-specific database system for maintaining data about allelic variants and distributing these via the World Wide Web. The database currently contains 24 entries and is accessible on the World Wide Web via the URL http://human-fmo3.biochem.ucl.ac.uk/Human _ FMO3. Additional entries can be submitted via the curator of the database or via a web-based form. Hum Mutat 22: 209-213, 2003.

πŸ“œ SIMILAR VOLUMES

Two novel mutations of the FMO3 gene in
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria
✍ B.R. Akerman; S. Forrest; L. Chow; R. Youil; M. Knight; E.P. Treacy πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 172 KB πŸ‘ 2 views

The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene encodes the dominant catalytically active isoform present in human liver.

The human SHOX mutation database
The human SHOX mutation database
✍ Beate Niesler; Christine Fischer; Gudrun A. Rappold πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 342 KB

The human SHOX database has recently been established to provide clinicians and scientists access to a central source of information about all known SHOX mutations associated with short stature phenotypes such as idiopathic short stature, Lèri-Weill dyschondrosteosis, Langer syndrome, and Turner syn

The human FOXL2 mutation database
The human FOXL2 mutation database
✍ Diane Beysen; Jo Vandesompele; Ludwine Messiaen; Anne De Paepe; Elfride De Baere πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 292 KB

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM# 110100) is an autosomal dominant genetic condition in which an eyelid malformation is associated (type I) or not associated (type II) with premature ovarian failure (POF). In 2001, mutations in the FOXL2 gene, encoding a forkhead trans

The human TBX5 gene mutation database
The human TBX5 gene mutation database
✍ Wolfram Heinritz; Lin Shou; Andre Moschik; Ursula G. Froster πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 198 KB

Germline mutations of the TBX5 gene were identified as the primary cause in up to 70 % of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterized by malformations of the upper limbs and cardiac defects. Furthermore, somatic mutations of the TBX5 gene have been described

Human Gene Mutation Databaseβ€”A biomedica
Human Gene Mutation Databaseβ€”A biomedical information and research resource
✍ Michael Krawczak; Edward V. Ball; Iain Fenton; Peter D. Stenson; Shaun Abeysingh πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 217 KB

Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological genetic variants. Disease-associated gene les