Diagnosis Of Charcot-Marie-Tooth Disease Simplified By Research

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Diagnosis Of Charcot-Marie-Tooth Disease Simplified By Research

http://www.medicalnewstoday.com/medicalnews.php?newsid=47998

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.

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 âˆ' 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.

Major cause

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.

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.