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

FEBS Lett. 2010 Jul 16;584(14):2990-4. doi: 10.1016/j.febslet.2010.06.011. Epub 2010 Jun 12.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Arteries
  • Ascorbic Acid / genetics
  • Collagen / genetics
  • Elastin / genetics
  • Glucose / genetics
  • Glucose Transport Proteins, Facilitative / genetics*
  • Mice
  • Models, Biological*
  • Mutation
  • Skin
  • Syndrome
  • Transforming Growth Factor beta / genetics
  • Vitamins / genetics


  • Glucose Transport Proteins, Facilitative
  • Transforming Growth Factor beta
  • Vitamins
  • Collagen
  • Elastin
  • Glucose
  • Ascorbic Acid