Glucose transporter 10 and arterial tortuosity syndrome: The vitamin C connection

Segade, Fernando

doi:10.1016/j.febslet.2010.06.011

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Volume 584, Issue 14 , Pages 2990-2994, 16 July 2010

Glucose transporter 10 and arterial tortuosity syndrome: The vitamin C connection

Edited by Michael R. Bubb

Department of Anatomy and Cell Biology, University of Pennsylvania, School of Dental Medicine, Philadelphia, PA 19104, USA

Received 3 May 2010; received in revised form 1 June 2010; accepted 8 June 2010. published online 14 June 2010.

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-β (TGFβ) 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. TGFβ activation represents a secondary response to a defective extracellular matrix.

Keywords: Arterial tortuosity, Glucose transporter, Ascorbate, Elastin, Collagen