12th chromosone in Czech CMT identified

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From Czech Science - Pavla Horakova

Czech scientists help locate gene responsible for crippling disease

Czech scientists have helped to identify a gene responsible for a

debilitating hereditary disease. Charcot-Marie-Tooth or CMT disease is

an inherited neurological disorder. Doctor Radim Mazanec from the Motol

Teaching Hospital in Prague took part in the pioneering work.

" The CMT neuropathy is a disease of peripheral nerves and the typical

clinical features of this disease are muscle weakness, especially at the

leg, at the peroneal muscles and calf muscles so the people have

problems with gait, and during that disease foot deformities develop,

the typical ones are a high arch and hammer toes. "

A few years ago Blanka Klouzalova, a woman from a small village in North

Moravia saw a TV documentary about a man suffering from the CMT disorder

and gradually losing control of his limbs. She realised that herself and

her two children had similar symptoms.

" This lady recognised that in her village there were more people who had

a problem with gait, who had foot deformities and leg weakness. She

contacted us at that time with a question: 'Me and my family are

suffering from very similar problems as you mentioned in your TV

programme and I would like to know what is going on.' We invited her and

her family to our teaching hospital in Motol in Prague for detailed

examination. "

At the same time a research team from the University of Antwerp in

Belgium were examining a large Belgian family whose members had been

known to suffer from the same disease for five generations. The Prague

team decided to carry out a wider study with Mrs Klouzalova's family.

Doctor Mazanec again.

" We made a very important decision to see all the family members in

North Moravia and we drove there with other colleagues from our

hospital, especially with Pavel Seeman, and performed examinations and

we took blood samples for DNA analysis. When we returned to Prague, we

sent these blood samples to our colleagues to Belgium. It was a very

important moment because they were prepared to perform a detailed DNA

analysis to recognise the gene which is responsible for this

neuropathy. "

The Belgian doctors had a vague idea of where the gene may be, but did

not have enough genetic material to pinpoint the mutation. Thanks to the

number of samples submitted by the Czech team, the faulty gene was

identified on the 12th chromosome. Doctor Mazanec says the discovery now

brings hope to future generations of potential CMT sufferers.

" Now we are able to provide genetic counselling, that is very important

for the next generation. We are able to say whether the child will be

healthy or sick. And very important for all medicine in the world is

that we are now able to better understand the mechanism of this disease.

I expect in the next 10 or 15 years we will be able thanks to a lot of

experiments on animals and tissue cultures to find how to repair this

gene defect. It will be for us and especially for our patients very

important to help them. Not only a little bit but really we could be

able to treat the cause of this very severe neurological disease. "

The Czech C-M-T Society, founded in 1999, provides assistance and

information to CMT patients and their families. www.websiska.cz/c-m-t