A collaboration between researchers across Aberdeen and Edinburgh has revealed a new way to detect signs of motor neuron disease (MND) in brain tissue before symptoms arise.

The biological tool looks at samples from patients’ brains and signals where it finds damaged cells, a method that has already ‘revolutionised’ cancer diagnostics according to the Aberdeen team.

Dr Holly Spence, co-author of the study from the University of Aberdeen, says this could help improve outcomes for MND patients:

“Our findings have implications for early diagnostics and intervention prior to symptom onset in MND.

“With better ability to detect disease we might be able to diagnose people with MND earlier, when therapeutic drugs might be much more effective.”

MND, affects around 5,000 people in the UK and is caused by the accumulation of certain proteins in the brain that clump together.

These protein clumps cause brain cells to gradually stop working and, as the disease progresses, impairs movement, cognition, and breathing, which worsens over time.

Early detection of these accumulating proteins in people with MND remains a major challenge to successful treatments.

Using a molecule called an “aptamer” that can target specific damaged cell proteins, researchers found biological signs MND in brain tissue samples before cells malfunction to the point that symptoms start to appear.

Project lead, the University of Aberdeen’s Dr Jenna Gregory explains the aptamer acts as a biological tool for researchers:

“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.”

The research predicts the newly developed aptamer could trigger a ‘step-change’ in MND research, supplementing or replacing some traditional antibody approaches for recognising MND.

As new medicines become available, it is vital to be able to measure the effectiveness of medicines in clinical trials and this tool, the teams say, can help address this issue.

Researchers explain this study is the first time the aptamer has been used in human tissue and they are “excited” by its ability to detect a diagnostic form of the protein that has so far been difficult to see.

Previous tools have only been able to detect signs of MND that are associated with the onset of symptoms.

Dr Fergal Waldron from the University of Aberdeen, who co-authored the study, says the tool can help “uncover previously hidden insights” into how MND makes people sick, adding:

“Fundamentally, using this tool we have found out that toxic protein clumps are building up well before people show symptoms. 

“This deeper understanding of the changes that happen in brain tissue at such an early stage has enormous potential for future research into the disease.”

These findings have been welcomed by patient groups and leading charities for motor neurone disease, with Dr Jane Haley, Director of Research at MND Scotland, saying:

“Early detection of MND in people is essential as we move towards a time when treatments that modify progression of the disease could become available.  

“Step changes in technical approaches – such as moving away from antibodies towards smaller synthetic RNA molecules, as with this aptamer – can accelerate progress by unlocking new lines of research, leading to new insights.”

Dr Haley says while the current development is not an early diagnostic test that can be adopted into clinical practice itself, it could help researchers reach that goal.

Jessica Lee, Director of Research at My Name’5 Doddie Foundation, adds that the new findings hold promise for both early diagnosis and treatment:

“Motor neuron disease is a devastating condition for which there are currently no effective treatments and long delays in diagnosis. 

“Due to advancements in research, many potential treatments are currently being explored in the lab and in clinical trials.

“However, we now need robust biomarkers of disease to support the evaluation of these treatments and to speed up diagnosis, so that treatments can be started earlier in disease progression. This exciting new technology holds promise to do just that.”

This aptamer is able to tag the abnormal protein clumps when they accumulate at much lower levels and with higher accuracy than the usual methods that rely on a larger build-up of protein clumps.

Researchers are being supported by Edinburgh Innovations, the University of Edinburgh’s commercialisation service, to license the patented molecule.  

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