Scientists close to correcting abnormal gene which causes CMT

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Scientists closer to correcting an abnormal gene which causes

Charcot-Marie-Tooth disease

News-Medical.Net 10-Sep-2004

Scientists at the University of Edinburgh are closer to correcting an

abnormal gene which causes one of the crippling muscle wasting diseases

known collectively as Charcot-Marie-Tooth (CMT) disease. Their findings

may lead to the development of gene therapy to treat patients with CMT

disease, it is reported in the current issue of Nature.

CMT affects around 23,000 people in the UK. It leads to muscle weakness

and wasting in the feet, lower legs, hands and forearms and can confine

those with the condition to a wheelchair. The researchers describe the

role of the gene Periaxin in causing CMT.

University of Edinburgh researchers, working with colleagues in Paris,

first identified Periaxin as one of the genes implicated in CMT disease

in 2001. The new research, funded by the Wellcome Trust, has shown that

the protein produced from this gene has a vital role in allowing the

insulation around the nerves to stretch as nerves get longer during body

growth. If the Periaxin gene is faulty, the insulation, known as myelin,

stays as short segments and the nerves cannot conduct impulses quickly.

This, in turn, means that patients lose the ability to walk.

Professor Brophy, Director of the Centre for Neuroscience Research

at Edinburgh University, and lead author of the paper, said:

" Researchers have now identified about half of the 30 or so different

genes which are responsible for inherited disease affecting the

peripheral nervous system, but developing treatments has been difficult

since, for most of these genes, we don't understand their normal

function. The Periaxin gene is one of the few for which we now

understand its role in nervous system function. The next step is to try

to develop gene therapies to correct the abnormal gene carried by

patients with this highly disabling disease. "

He added: " The major reason for studying genetic diseases in the human

population is to try to develop treatments for the diseases. However, an

important spin off is that these diseases can provide new understanding

into human biology and the work on the Periaxin gene is a good example

of this. As well as providing important insight into why patients with

CMT disease become disabled, for the first time we now have a clear view

of the importance of the length of the insulated segments around nerves,

in determining how nerves work. "

http://www.ed.ac.uk/