title: Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.
abstract: Arterial Tortuosity Syndrome (ATS) is a heritable disease characterized by twisting and lengthening of the major arteries, hypermobility of the joints, and laxity of skin. ATS is caused by mutations in SLC2A10, encoding Glucose Transporter 10 (GLUT10). The current model of ATS holds that loss of GLUT10 at the nuclear periphery induces a glucose-dependent increase in Transforming Growth Factor-beta (TGFbeta) that stimulates vessel wall cell proliferation. Instead, we propose that GLUT10 transports ascorbate, a cofactor for collagen and elastin hydroxylases, into the secretory pathway. In ATS, loss of GLUT10 results in defective collagen and/or elastin. TGFbeta activation represents a secondary response to a defective extracellular matrix.
authors.affiliation: Department of Anatomy and Cell Biology, University of Pennsylvania, School of Dental Medicine, Philadelphia, PA 19104, USA. segade@dental.upenn.edu
authors.forename: Fernando
authors.initials: F
authors.lastname: Segade
mesh_terms: D000818:Animals; D001158:Arteries; D001205:Ascorbic Acid / Q000235:genetics; D003094:Collagen / Q000235:genetics; D004549:Elastin / Q000235:genetics; D005947:Glucose / Q000235:genetics; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics*; D051379:Mice; D008954:Models, Biological; D009154:Mutation; D012867:Skin; D013577:Syndrome; D016212:Transforming Growth Factor beta / Q000235:genetics; D014815:Vitamins / Q000235:genetics
chemical_list: D051246:Glucose Transport Proteins, Facilitative; D016212:Transforming Growth Factor beta; D014815:Vitamins; D003094:Collagen; D004549:Elastin; D005947:Glucose; D001205:Ascorbic Acid