03 June 2024 , 19:41
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Motor neurone disease can be devastating. It’s a fatal, and rapidly progressing neurological condition which currently affects around 5,000 people in the UK. It can affect adults at any age but most people are diagnosed over the age of 50.
The disease is caused by the accumulation of certain proteins in the brain that clump together, causing brain cells to gradually stop working. As the disease progresses, it impairs movement, thinking and breathing, which worsen over time. Current tests, however, are slow to identify the condition.
Dr Brian Dickie, director of research, Motor Neurone Disease Association says: “It often takes a year from the first onset of symptoms to receiving a diagnosis of MND. This innovative research into the early cellular changes occurring in MND offers exciting potential for the development of new tests to help reduce diagnostic delay.
“As treatment does not begin until the disease is diagnosed, earlier intervention will hopefully also mean that treatments are more effective.”
Leeds Rhinos and Great Britain Rugby League player Rob Burrow has died at 41But now a new technique from Edinburgh University can detect the disease in brain tissue before symptoms appear – potentially enabling faster intervention and treatment. Scientists believe it could supplement or replace conventional approaches. The tool uses “aptamers”, and could be a game-changer.
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An aptamer, developed to bind to the protein clumps that accumulate in the brains of people with MND, can identify damaged proteins in brain tissue before the cells malfunction – the stage at which MND symptoms appear and current tests can identify.
The early detection of these accumulating proteins in people with MND remains a major challenge to successful treatments, slowing down trials of new medicines. Dr Mathew Horrocks of Edinburgh University believes this research could speed things up. “This is the first time that this approach has been used in human tissue and we’re excited by its ability to detect a pathological form of the protein that has so far been difficult to characterise.
“Unlike antibodies used in current testing for MND, aptamers are synthesised in the laboratory, offering a more cost-effective and reliable alternative.”
“This could be a game-changer for MND research, diagnostics and treatment. This tool ‘targets’ the disease protein and allows us to see where toxic clumps are building up in the body. It can do this for much lower amounts of disease proteins, and with greater accuracy than ever before.”
Without international collaboration between scientists from the University of Edinburgh; Instituto Italiano di Tecnologia, Genova; King’s College London; and the Centre for Genomic Regulation in Spain, this revolutionary MND research could never have happened.