Title
Absence of arterial phenotype in mice with homozygous **slc2A10** missense substitutions Absence of arterial phenotype in mice with homozygous **slc2A10** missense substitutions
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences. Veterinary Sciences
Publication type
article
Publication
Bognor Regis ,
Subject
Veterinary medicine
Source (journal)
Genesis. - Bognor Regis
Volume/pages
46(2008) :8 , p. 385-389
ISSN
1526-954X
ISI
000258889900001
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
E-info
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