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.

Genetic basis of hereditary nerve disorder revealed

A major form of one of the most prevalent inherited neurological disorders in humans, Charcot-Marie-Tooth disease (CMT), stems from an abnormality in the cellular powerhouses, or mitochondria, that fuel the nerves required for muscle control, suggests new findings by neurogeneticists at the Duke Center for Human Genetics and their international colleagues. The unexpected discovery could open new research pathways to understanding an array of diseases of the peripheral nervous system, as well as treatments for CMT, the researchers said.

200,000 people donated 2,000 total years of computing time over the past two years in a distributed computing effort to simulate the folding of a single protein.

Trying to anticipate how the many atoms within a protein interact as it crumples up is a mind-bending problem – involving near a billion steps.

In silico experiments such as this may eventually shed light on treatments for other diseases caused by mis-folded proteins.

Despite the fact that scientists still don’t fully understand the human genome, orders are already being taken (at $712,000 a pop) to sequence the genes of individuals. The process is expected to take about a week, with the eventual goal of sequencing an individual’s genetic makeup in 24 hours for $1,000. I, for one, am looking forward to getting my DNA on a CD. Think of the sci-fi short story possibilities…

Nature Publishing Group has helpfully supplied a User’s Guide for the human genome. (Free but tedious registration required… just tell them you’re Donald Duck if the questions seem too probing.) So now you know where to look if you’re experimenting at home with your chemistry set, and you need to know just how to go about finding genes of interest, or how to find a corresponding genetic sequence in mice.