Publication
Title
Absence of arterial phenotype in mice with homozygous **slc2A10** missense substitutions
Author
Abstract
Arterial tortuosity syndrome (ATS, MIM# 208050) is a rare autosomal recessive connective tissue disease, mainly characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries (Callewaert et al., 2008, Hum Mutat 29:150158). Recently, mutations were identified in the SLC2A10 gene encoding the facilitative glucose transporter GLUT10 (Coucke et al., 2006, Nat Genet 38:452457). It was hypothesized that loss-of-function of the transporter results in upregulation of the transforming growth factor beta (TGFβ) signaling pathway (Coucke et al., 2006, Nat Genet 38:452457). We anticipated that a mouse model would help to gain more insight in the complex pathophysiological mechanism of human ATS. Here, we report that two mouse models, homozygous respectively for G128E and S150F missense substitutions in glut10 do not present any of the vascular, anatomical, or immunohistological abnormalities as encountered in human ATS patients. We conclude that these mouse strains do not phenocopy human ATS and cannot help the further elucidation of pathogenetic mechanisms underlying this disease.
Language
English
Source (journal)
Genesis. - Bognor Regis
Publication
Bognor Regis : 2008
ISSN
1526-954X
Volume/pages
46:8(2008), p. 385-389
ISI
000258889900001
Full text (Publishers DOI)
Full text (publishers version - intranet only)
UAntwerpen
Faculty/Department
Publication type
Subject
External links
Web of Science
Record
Identification
Creation 12.04.2012
Last edited 30.05.2017