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.
The current research of Kristien Verhoeven and Kristl Claeys, under the direction of Vincent Timmerman and Peter De Jonghe, reveals how important MFN2 is in the origin of CMT2. They studied 323 CMT patients, 249 of whom suffer from CMT2. From the study of these patients (and 170 healthy individuals), it is clear that mutations in MFN2 are the major cause of CMT2. On the basis of these results, genetic tests for CMT2 are now possible.
The cell's energy suppliers
In addition, this research throws light on the mechanisms behind the origin of CMT2. MFN2 is a protein with an important function in the mitochondria, the cell's energy suppliers. So, it's clear that the role of mitochondria in CMT2 needs to be studied further. This could be a key to better understanding this complex disorder. And a better understanding could be a first step toward treatment. But, for the time being, treatment is still a long way off.
Contact: Joke Comijn
VIB, Flanders Interuniversity Institute of Biotechnology