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Mice point to a therapy for Charcot-Marie-Tooth disease
Date:8/2/2011

221.10.254.64

VIB researchers have developed a mouse model for Charcot-Marie-Tooth (CMT) neuropathy, a hereditary disease of the peripheral nervous system. They also found a potential therapy for this incurable disease. The treatment not only halted the damage to the nerves and the atrophy of the muscles, it even succeeded in reversing the symptoms. The research was conducted under supervision of Wim Robberecht en Ludo Van Den Bosch from VIB-K.U.Leuven, in collaboration with the team of Vincent Timmerman at VIB-University of Antwerp. The study was published in Nature Medicine.

CMT: a collection of neuropathies

Charcot-Marie-Tooth (CMT) disease is the name for a collection of hereditary disorders and affects approximately one in 2,500 individuals, making it the most common inherited disorder of the peripheral nervous system. CMT is characterized by loss of muscle tissue due to denervation and by sensory abnormalities, both predominantly in feet and legs but also in the hands and arms in advanced stages of the disease. Persons with CMT can be affected moderately to quite severely. It is presently not possible to cure or prevent CMT, which affects both children and adults. Research into the molecular biological process leading to CMT is important, because it contributes to the development of good diagnosis and offers possible treatments.

Earlier work by VIB researchers showed that some CMT patients have mutations in HSPB1, a gene coding for the 27 kDa small heat shock protein B1, a protein that plays a role in many stress-related molecular processes in the body. Until now, it was unclear how mutations in HSPB1 could lead to degeneration of the nerve bundles and to muscular weakness.

Mouse model for CMT

The core of the study by Constantin van Outryve d'Ydewalle consists of the construction of a mouse model for CMT. The researchers expressed the mutated human HSPB1 gene in mo
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Contact: Joris Gansemans
joris.gansemans@vib.be
32-477-697-668
VIB (the Flanders Institute for Biotechnology)
Source:Eurekalert

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