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Motor Neurone Disease: Scientists find mutation that could end hell of disease

Researchers found it was present in the so-called “junk” DNA of up to one in 100 sufferers. They believe that a drug currently in development may be effective for people carrying this mutation and could halt the disease in its tracks. Around 5,000 people in the UK live with MND, where signals from nerves in the brain eventually stop reaching the muscles, causing them to weaken, stiffen and waste.

Former Leeds Rhinos rugby league star Rob Burrow and Scottish rugby legend Doddie Weir have been diagnosed with the disease.

Non-coding DNA – often known as junk DNA – makes up more than 99 per cent of the human genome.

Study leader Dr Jonathan Cooper- Knock, of the University of Sheffield, told the journal Cell Reports: “Until now scientists have never systematically examined non-coding or junk DNA in relation to MND.

“Not only have we identified a mutation in junk DNA which puts people at risk of developing a certain form of the MND.

“We have also found that by targeting the mutated gene with the drug SynCav1, it might be possible to halt or prevent the disease progressing.”



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