home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> Genetic News | search  

Gene Responsible For Fatal Blood Disorder TTP Discovered

  October, 8 2001 1:54
your information resource in human molecular genetics

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.


David Ginsburg
tel +1 734 647 4808
e-mail ginsburg@umich.edu

Amanda J. Fosang
tel +61 3 9345 6628
e-mail fosang@cryptic.rch.unimelb.edu.au

(C) Nature press release.

Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.