Titre
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Fleming, J. C.
Auteure/Auteur
Tartaglini, E.
Auteure/Auteur
Steinkamp, M. P.
Auteure/Auteur
Schorderet, D. F.
Auteure/Auteur
Cohen, N.
Auteure/Auteur
Neufeld, E. J.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
1061-4036
Statut éditorial
Publié
Date de publication
1999-07
Volume
22
Numéro
3
Première page
305
Dernière page/numéro d’article
8
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jul
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Jul
Résumé
Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1) transport. Pharmacological doses of thiamine correct the anaemia, and in some cases improve the diabetes, although progressive sensorineural deafness is irreversible. Previous studies localized the TRMA gene to a 4-cM region on chromosome 1q23.3 (ref. 5), and fine-mapping has recently narrowed that region further. We have previously demonstrated that fibroblasts from people with TRMA lack high-affinity thiamine transport. Expression of a gene encoding a known yeast thiamine transporter, THI10 (refs 8-10), in TRMA mutant cells prevents apoptotic cell death in thiamine-depleted medium. On the basis of these studies, we hypothesized that a defective thiamine transporter causes TRMA. We undertook a candidate gene approach to identify putative thiamine transporters in the 1q23.3 critical region. Here we present evidence that the gene SLC19A2 (for solute carrier family 19 (thiamine transporter), member 2) encodes the first known mammalian thiamine transporter, which we designate thiamine transporter-1 (THTR-1).
Sujets
PID Serval
serval:BIB_C1D355F4BC65
PMID
Date de création
2008-01-28T11:58:50.912Z
Date de création dans IRIS
2025-05-20T21:49:17Z