Arterial tortuosity syndrome

Definition:

Arterial tortuosity syndrome is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the large and medium-sized arteries with defective elastic fibers of the arterial wall. Other features of this disease are characteristic face and several connective tissue manifestations. It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport of ascorbate, a cofactor for collagen and elastin hydroxylases, has been proposed recently.

References:

[1]. Bruno Drera, et al. Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. Am J Med Genet A. 2007 Jan 15;143A(2):216-8. [Content Brief]

[2]. Fernando Segade, et al. Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection. FEBS Lett. 2010 Jul 16;584(14):2990-4. [Content Brief]

[3]. Paul J Coucke, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. [Content Brief]

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