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British Scientists Discover Key to Motor Neuron Disease

Posted on: Friday, 29 February 2008, 16:35 CST

British researchers reported a key breakthrough in efforts to better understand the fatal condition Motor Neuron Disease. The research team said that a mutated gene is actually behind a form of the disease, and provides a tool to better comprehend the illness.

Experts say the discovery is the most significant development since the gene was first discovered 15 years ago.

Motor Neuron Disease (MND) is a progressive wasting of the muscles, although the mind typically remains unaffected.   In the UK, approximately 5,000 people suffer from MND, and five people die of the disease each day.

The researchers, led by King's College London, discovered that a common mutation in the gene coding for the protein TDP-43 was present in one inherited form of MND.  The protein has long been known to accumulate abnormally in MND patients, but it had been previously thought this was an innocent by-product of the disease.

However, now it is clear that this protein is "directly toxic" to motor neuron, said Professor Chris Shaw, who led the research, in a BBC News interview.

While only 1% of MND cases result from the inherited form of the disease this mutation causes, researchers can use the new discovery to give animals the disease and investigate its development

"It is a new biological tool to understand the disease and develop treatments," said Shaw. "It is another part of the jigsaw, but there are still, admittedly, a lot of pieces missing."

The TDP-43 gene was first discovered in1993, after researchers found the gene mutation SOD1 was responsible for one form of MND.  Scientists said that although the finding improved understanding, it has yet to significantly treatment.

But the MND Association believes the latest finding will now accelerate possibilities for better treatments.

"This new information will be a springboard to greater understanding of the processes that cause motor neurons to die," Dr. Brian Dickie, director of research, told BBC News.

"It is through such understanding that we will develop the treatment strategies to defeat this devastating disease."

The report, “TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis”, was published in the journal Science.  An abstract can be viewed here.

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