Researchers have tracked down the gene mutated in patients with a potentially fatal blood disorder, TTP (Nature, Vol. 413, No. 6855, 04 Oct 2001). The finding adds significantly to our understanding of how the disease might be treated and to our general knowledge of the molecules involved in blood clotting.
In TTP (thrombotic thrombocytopenic purpura), clumps of red blood cells and a large protein called von Willebrand factor (VWF) gather in the small blood vessels of many organs, including the brain and kidneys. Normally VWF mediates the interactions among platelets and between them and the walls of blood vessels, maintaining the balance between bleeding and clotting.
David Ginsburg of the University of Michigan Medical Center, Ann Arbor, and colleagues find that ADAMTS13 is the gene behind TTP. Their discovery sheds light on the role of the protein it encodes, ADAMTS13, in healthy blood flow, especially with respect to VWF.
"Because the exact location of the ADAMTS13 gene within the human genome has been mapped, gene therapy - along the lines being explored for treating haemophiliacs - may be a realistic option in the future for patients with inherited TTP," say Amanda J. Fosang and Peter J. Smith of the University of Melbourne, Australia, in an accompanying News and Views article.
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