Institute for Regeneration and Repair

Tool detects early signs of motor neurone disease

A technique identifying the signs of motor neurone disease (MND) in humans earlier than current tests has been discovered, research reveals.

The method can detect the disease in brain tissue before symptoms appear – potentially enabling faster intervention and treatment, scientists say.

The tool, which makes use of small biological molecules, known as aptamers, could trigger a step change in MND research by supplementing or replacing conventional approaches.

The aptamer targeting the protein associated with MND was developed by scientists from the University of Edinburgh School of Chemistry and Institute for Regeneration and Repair Chemistry Hub, Instituto Italiano di Tecnologia, King’s College, London and the Centre for Genomic Regulation in Spain. The research was funded by Target ALS.

Huge potential

An aptamer, developed to bind to protein clumps that accumulate in the brains of people with MND, was able to identify damaged proteins in brain tissue samples before the cells malfunctioned – the stage at which MND symptoms appear and current tests identify the disease.

Early detection of these accumulating proteins in people with MND remains a major challenge to successful treatments.  As new medicines become available, it is vital to be able to measure the effectiveness of medicines in clinical trials. This tool, could help address this issue, the team says.

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 the antibodies used in current testing for MND, aptamers are synthesised in the laboratory, offering a more cost-effective and reliable alternative.

Dr Mathew Horrocks, School of Chemistry and Institute for Regeneration and Repair Chemistry Hub

Motor neuron disease

Motor neurone disease is a fatal, rapidly progressing neurological condition which currently affects around 5,000 people in the UK. It can affect adults of any age, however 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 the cells to gradually stop working. As the disease progresses, it impairs movement, thinking and breathing, which worsens over time.

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. This could be a game-changer for MND research, diagnostics and treatment.

Dr Jenna Gregory, University of Aberdeen

Collaborative approach

The study, published in the journal Acta Neuropathologica, was carried out by a team of researchers from the Universities of Edinburgh and Aberdeen.

Edinburgh Innovations, the University of Edinburgh’s commercialisation service, will license the patented aptamer.

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.

Dr Brian Dickie, Director of Research, Motor Neurone Disease Association

IRR Chemistry Hub

Journal paper

School of Chemistry

Edinburgh Innovations

Motor Neuron Disease Association

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