title: Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.
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 29:150-158). Recently, mutations were identified in the SLC2A10 gene encoding the facilitative glucose transporter GLUT10 (Coucke et al., 2006, Nat Genet 38:452-457). It was hypothesized that loss-of-function of the transporter results in upregulation of the transforming growth factor beta (TGFbeta) signaling pathway (Coucke et al., 2006, Nat Genet 38:452-457). 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.
authors.forename: B L
authors.initials: BL
authors.lastname: Callewaert
authors.forename: B L
authors.initials: BL
authors.lastname: Loeys
authors.forename: C
authors.initials: C
authors.lastname: Casteleyn
authors.forename: A
authors.initials: A
authors.lastname: Willaert
authors.forename: P
authors.initials: P
authors.lastname: Dewint
authors.forename: J
authors.initials: J
authors.lastname: De Backer
authors.forename: R
authors.initials: R
authors.lastname: Sedlmeier
authors.forename: P
authors.initials: P
authors.lastname: Simoens
authors.forename: A M
authors.initials: AM
authors.lastname: De Paepe
authors.forename: P J
authors.initials: PJ
authors.lastname: Coucke
mesh_terms: D000818:Animals; D001158:Arteries / Q000166:cytology / Q000378:metabolism*; D004195:Disease Models, Animal; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D051379:Mice; D020125:Mutation, Missense
chemical_list: D051246:Glucose Transport Proteins, Facilitative; C531462:Slc2A10 protein, mouse