How MND Scotland’s support of the Edinburgh Brain Bank is driving global MND research forward

At MND Scotland we understand how important it is for researchers to have the tools they need to drive forward their search for treatments for motor neuron disease (MND). Sometimes that means making sure precious resources are available. One such commitment is our long-standing support for the Edinburgh Brain Bank, a vital research resource.

The Edinburgh Brain Bank, based at the University of Edinburgh, is one of the world’s leading centres for the donation and storage of human brain and spinal cord tissue. It holds donated tissue from people with MND, but also from people with other neurodegenerative conditions such as frontotemporal dementia (FTD), prion disease and Alzheimer’s disease.

MND Scotland has provided long-standing and vital funding to help maintain this world leading resource, alongside funding from Alzheimer’s Scotland.  Our support has enabled the Edinburgh Brain Bank to collect, store, and supply post-mortem neurological tissue from people who had MND, creating an irreplaceable resource for researchers not only in Scotland and the UK, but around the world.

One aspect of the Edinburgh Brain Bank that makes it different, is the tissue they store as part of the Sudden Death Brain Bank. In order to understand the biological changes that happen when diseases develop, scientists usually compare their results with those in unaffected tissue. This is very difficult to collect as people without a diagnosed condition do not generally arrange to donate their brain tissue in advance. The Sudden Death Brain Bank is able to contact the families of people who have unexpectedly died and sensitively offer them the opportunity to donate brain tissue from their loved ones. This has created a rare brain resource that is of enormous value to researchers and complements the MND, FTD and Alzheimer’s resources in Edinburgh.

Thanks to the altruism of those who chose to donate their brain and spinal cord, the Edinburgh Brain Bank has contributed to of research projects globally, including many focused on MND. It has allowed researchers to investigate how MND affects the human brain and spinal cord at the cellular and molecular level, something that simply isn’t possible otherwise. For people living with a neurodegenerative condition, making the decision to donate their brain tissue in the hope that it will help others is incredibly valuable and we can’t thank them enough for supporting research in this selfless way.

Among the many studies supported by the Brain Bank, some examples of the insights it has led to are:

• The development of a new, highly sensitive detection system for misfolded TDP-43 protein. TDP-43 aggregates form when it misfolds and this occurs in 97% of people with MND. Using tissue from the Edinburgh Brain Bank, researchers at the University of Aberdeen have developed a targeted RNA aptamer that can detect misfolded TDP-43 at very low levels and have demonstrated that it can be detected before symptom onset (see Acta Neuropathologica paper in 2024). They are now using this tool to develop a biomarker.
• An understanding of the molecular and cellular overlap between MND and other neurodegenerative conditions like frontotemporal dementia (FTD).  By examining the connections between neurons (called synapses), researchers at the Universities of Dundee and Edinburgh identified that these connections in the prefrontal cortex (an area of the brain associated with cognition and not motor function) are lost in people with MND who have cognitive change (see Acta Neuropathalogica paper in 2018). This led to a realisation that changes in non-motor areas of the brain can occur in MND.
• Identification of a potential target for treatment intervention. In addition to stand alone studies (as in the examples above), postmortem tissue studies often provide vital supporting evidence for research undertaken in other models. When researchers at the University of Edinburgh cultured stem cells from people with a change in their C9orf72 gene and showed impaired function of their energy generating apparatus, called mitochondria, they were able to confirm that human brain tissue also had reduced levels of the relevant proteins (see Acta Neuropathologica paper in 2021). This suggests that targeting mitochondria dysfunction could be an approach for developing treatments for MND that arises from a change in the C9orf72 gene.

These findings have not only helped deepen our understanding of MND, but also helped point to promising avenues for treatment and early diagnosis.

Because of the high quality of the samples from the Edinburgh Brain Bank, it has become a trusted partner for researchers worldwide, enabling real progress across the MND research landscape.

At MND Scotland we are incredibly proud to be funding the Edinburgh Brain Bank, and of the advancements in MND research it has made possible. By supporting this work, thanks to the generosity of our supporters, MND Scotland has helped give researchers a set of tools they need to understand MND like never before. This represents an enduring legacy for everyone who has donated their brain and spinal cord to help advance MND research. Together, we’re driving progress that reaches far beyond Scotland, offering hope to people with MND everywhere.