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Genetic Mutation Implicated in Charcot-Marie-Tooth Disease

Around 1 in 2500 people suffer from hereditary Charcot-Marie-Tooth (CMT) disease. The role of genetics in this disease has remained unclear. However researchers from the// Flanders Interuniversity Institute for Biotechnology (VIB) connected to the University of Antwerp have now reported that mutations in mitofusin 2 are the major cause of the disease. These important findings could also be the basis of a new genetic test.

Weakening the muscles

Charcot-Marie-Tooth (CMT) disease is the most common hereditary disorder of the peripheral nervous system, leading to a weakening of the muscles in the lower legs, feet and hands as the nerves that run from the spinal cord to the muscles die off. The syndrome is extremely variable: some patients hardly notice it, while others become confined to a wheelchair. Today, only palliative treatment is available − there are as yet no effective therapies for preventing, retarding, or stopping the course of the disease.

Knowledge of genes makes fast diagnosis possible CMT embraces a heterogeneous group of disorders, all of which are caused by mutations in certain genes. Identifying these genes is fundamental to improving diagnosis. This is important for assessing what the further course of the disease might be for a given patient. But it is also important for providing genetic advice and prenatal and pre-implantation diagnosis for couples who desire to have children but whose families have a history of the disease. Research by Vincent Timmerman's group underpinned the currently existing genetic test for CMT1A. However, for a long time scientists did not know which gene causes CMT2. In 2004, the VIB researchers in Antwerp, in collaboration with German and American research groups, showed that mitofusin 2 (MFN2) was altered in a large number of CMT2 patients.

Major cause

The current research of Kristien Verhoeven and Kristl Claeys, under the direction of Vincent Tim
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