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New Charcot-Marie-Tooth Disease Gene

Posted Nov 19 2009 10:02pm
Mouse with the FIG4 Charcot-Marie-Tooth disease mutation. Credit Miriam Meisler.

Charcot-Marie-Tooth disorder is one of the most common inherited neurological disorders – it affects 1 in 2,500 people in the U.S. This label actually refers to a group of related conditions that affect the body’s peripheral nerves, resulting in pain and muscle weakness in the feet and legs.Until now, the genetic causes for 70% of Charcot-Marie-Tooth cases have been known and genetic testing can help guide treatment for affected individuals. It can also help family members determine their risk.

Now another 5% or so of these families will be able to identify their genetic cause of Charcot-Marie-Tooth. Geneticist Miriam Meisler and her team at the University of Michigan have identified a mutation in a gene ( FIG4 ) in both mice with similar symptoms and people who have Charcot-Marie-Tooth disorder. We can expect this discovery will lead to new strategies for treating the symptoms of this form of the disorder.

(Photo: Mouse with FIG4 mutation, thanks to Miriam Meisler)

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This entry was posted on Wednesday, August 1st, 2007 at 11:24 am and is filed under Rare Genetic Conditions. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.

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