CMT Research Breakthrough: Function of Periaxin gene now understood

Scientists from Edinburgh University have made a breakthrough in developing a treatment for Charcot-Marie-Tooth (CMT) disease. The researchers are now closer to correcting an abnormal gene – Periaxin – that allows nerve insulation to stretch as the nerves get longer when the body grows. If the Periaxin gene is faulty, the insulation, known as myelin, does not lengthen and the nerves cannot conduct impulses quickly, which leads to the muscle-weakening disease developing.

Professor Peter Brophy, director of the centre for neuroscience research at Edinburgh University, was the lead author of the newly published findings, which were the culmination of ten years’ work.
He said: "Researchers have now identified about half of the 30 or so different genes responsible for inherited diseases 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."
The team of six scientists in Edinburgh have hailed the research as a "significant breakthrough" but are aware much work still lies ahead.
Prof. Brophy said: "We have been looking for the genes responsible and we have found one of them. There hasn’t been huge progress in gene therapy so far but there will be in the future. It’s good news for sufferers."

It is also thought that the findings could help research into treatments for multiple sclerosis.

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