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Gene For Rare Vascular Disorder Identified

  February, 17 2004 9:54
your information resource in human molecular genetics
Researchers have identified a gene that helps to regulate blood vessel growth. Mutations in the gene may contribute to the rare vascular disorder Klippel-Trenaunay syndrome (KTS).

Patients with KTS have malformed blood vessels in the skin. The problems often occur in just one enlarged limb, and the condition's cause is unknown. In the 12 February 2004 issue of Nature (Vol. 427, No. 6975, pp. 640-645), Qing Wang and colleagues show that patients with the condition carry a mutated version of a gene called VG5Q. The gene is thought to control blood vessel growth.

The unusual means by which these scientists identified and evaluated VG5Q, using a combination of human genetics and functional assays, underscores the importance of using similar approaches to help identify other factors involved in angiogenesis, the formation of new blood vessels, say Diether Lambrechts and Peter Carmeliet in an accompanying News and Views article. "Such factors could include molecules that are clinically relevant, or potential drug targets," they add.


Qing Wang
The Cleveland Clinic Foundation
Cleveland, OH
Tel: +1 216 445 0570
E-mail: wangq2@ccf.org

Peter Carmeliet and Diether Lambrechts
University of Leuven, Belgium
Tel: +32 16 34 57 74 (PC)
E-mail: peter.carmeliet@med.kuleuven.ac.be

(C) Nature press release.

Message posted by: Trevor M. D'Souza

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