Closing in on treatment for Charcot-Marie-Tooth disease?

May 07, 2004

Charcot-Marie-Tooth (CMT) is a hereditary disorder of the peripheral nervous system that strikes 1 person in every 2500. Increasing debilitation of the muscles ultimately leads to their disappearance in the lower legs, feet and hands. Now, researchers from VIB (the Flanders Interuniversity Institute for Biotechnology) have discovered a piece of the molecular puzzle of this disease. Two small 'heat shock' proteins turn out to be crucial - faults in the coding genes lead to the disease. Additional research has shown that these proteins play an important role in many other neurodegenerative disorders as well. This research moves us a step closer to the development of new therapies.

CMT, a serious disorder without a cure

CMT, the most common hereditary disorder of the peripheral nervous system, leads to debilitation of the muscles in the lower legs, feet and hands. The clinical picture is extremely variable, but older patients sometimes require a wheelchair. Today, only supportive treatment is available; there are still no effective therapies to retard or stop the progress of the disease. More insight into the molecular processes of this disease is essential for diagnosis and potential treatment. And exploration of the genes involved is a crucial step in this.

VIB research findings

Joy Irobi and her colleagues - under the direction of Vincent Timmerman and Peter De Jonghe of the Department of Molecular Genetics, University of Antwerp - are concentrating on the genetic and biological study of hereditary disorders of the peripheral nervous system. The largest cells in our body, our peripheral neurons can be 1 meter long in bundles of nerve fibers extending from the spinal cord to the feet.

Recently, the researchers in Antwerp have found mutations in the genetic code of two small 'heat shock' proteins (HSPs) in a number of people with CMT. In stress situations, cells produce HSPs that act as 'chaperones', stabilizing other proteins and protecting against degradation. The specific function of the two HSPs in our peripheral nerves has not yet become clear, but the mutations that have been discovered in several European families are now leading to serious symptoms.

Toward new therapies

The scientists have shown that the mutations lead to a stronger interaction between the two HSPs. This causes a precipitation in cultured cells and reduces the viability of neurons. These findings demonstrate the importance of HSPs in neurodegenerative disorders. The team's research results will open the way for new progress in the development of therapies for these hereditary nervous disorders. These HSPs have previously been studied in Amyotrophic Lateral Sclerosis (ALS, or Lou Gehrig's disease), a serious acquired disorder of the nervous system. Hopefully, the discovery of the mutations in the two HSPs will now lead to new insights into this disorder as well.
-end-
Related scientific publications Nature Genetics 2004 (Irobi et al. & Evgrafov et al. - online 2 May)

Note to the Editor: The identification and study of the HSP mutations was achieved through close collaboration among several Flemish (VIB, University of Antwerp, Ghent University, and the Catholic University of Leuven) and foreign laboratories and physicians. Each year, the Antwerp researchers organize meetings with the CMT-België patients' association in order to explain their research results. Info: CMT-België vzw, Quinten Matsijslaan 33, Grobbendonk, T/F: +32 14 51 79 44, e-mail: nel.cools@tijd.com

VIB, the Flanders Interuniversity Institute for Biotechnology, is a research institute where 800 scientists conduct gene technological research in a number of life-science domains, such as human health care and plant systems biology. Through a joint venture with four Flemish universities (Ghent University, the Catholic University of Leuven, the University of Antwerp, and the Free University of Brussels) and a solid funding program for strategic basic research, VIB unites the forces of nine university science departments in a single institute. Via its technology transfer activities, VIB strives to convert the research results into products for the benefit of the consumer and the patient. VIB also distributes scientifically substantiated information about all aspects of biotechnology to a broad public.

For more information, please contact VIB's Communication Department (Tel: 32-9-244-6611), who will gladly put you in contact with the scientists in question.

VIB (the Flanders Institute for Biotechnology)

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