Center for Medical Genetics Center for Medical Genetics

Arterial Tortuosity Syndrome

  • Research focus
  • Team members

Arterial tortuosity syndrome is a rare autosomal recessive connective tissue disorder characterized by elongation and tortuosity of the large and middle-sized arteries with a propensity to aneurysm formation. Arterial stenosis may occur. Patients present with typical facial characteristics and skeletal and skin symptoms. The disorder is caused by mutations in SLC2A10, encoding GLUT10, a facilitative glucose transporter. The pathophysiological mechanisms underlying the disorder are however largely unknown. Further insights herein may contribute to a better understanding of the biology of cardiovascular abnormalities including aneurysm formation and dissection that are an important cause of morbidity and mortality in the Western World.

Research goals

  • Clinical characterization of the phenotypic spectrum of Arterial Tortuosity Syndrome
  • Identification of the substrate of GLUT10
  • Elucidation of the pathogenesis using animal models including zebrafish and mice.

We welcome collaboration with other groups.

We are grateful to receive samples of patients affected with arterial tortuosity syndrome. We also welcome collaboration on research projects.

Postdoctoral researchers

Lab technicians

Last updated: 17 July 2018 - 17:01
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