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New Genetic Cause Of Lou Gehrig Disease Identified

 
  July, 14 2003 7:52
your information resource in human molecular genetics
 
     
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is an incurable disease that usually occurs in people older than 40. The disease causes motoneuron degeneration resulting in severe muscle wasting leading to death. In a paper to be published in the August issue of Nature Genetics, Peter Carmeliet and colleagues have identified a new gene, VEGF, that when mutated results in an increased risk of developing ALS. In mice with damaged motoneurons, introduction of the VEGF protein has a protective effect on the damaged cells suggesting the therapeutic potential of VEGF.

Although ALS can be found within particular families, most cases occur without any family history and are thought to be due to complex interaction between different genes and environmental factors. In this new study, the authors examined the role of VEGF, a gene that is known to be involved in the growth of blood vessels, in ALS. By testing genetic variation in VEGF in a large number of ALS patients, the authors found that mutations that slow down production of VEGF result in an increased risk of developing the disease.

In mice that develop ALS, the authors found that the addition of a mutated VEGF gene made the disease much more severe. Mice paralyzed by spinal cord damage improved much more rapidly when treated with VEGF beforehand than those mice that were not given any VEGF.

These findings will help in identifying people at risk of developing ALS and suggest that treatment with VEGF might slow the onset of this debilitating disease.

Author contact:

Peter Carmeliet
(University of Leuven, Belgium)
Tel: +32 16 345774
E-mail: peter.carmeliet@med.kuleuven.ac.be

Also available online

(C) Nature Genetics press release.


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