Research simplifies diagnosis of Charcot-Marie-Tooth disease

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Research simplifies diagnosis of Charcot-Marie-Tooth disease

http://www.news-medical.net/?id=19012

Hereditary Charcot-Marie-Tooth (CMT) disease strikes 1 in 2500

people.

Researchers from the Flanders Interuniversity Institute for

Biotechnology (VIB) connected to the University of Antwerp are now

demonstrating that mutations in mitofusin 2 are the major cause of

CMT2, a specific type of the disease.

These findings are important for a better understanding of CMT in

general, and they also form the basis for a genetic test for CMT2.

This test is already available.

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

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.

The current research of Kristien Verhoeven and Kristl Claeys, under

the direction of Timmerman and 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.

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.

http://www.vib.be