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Nerve cell findings may aid understanding of movement disorders

Study revealed details of the structure of the human nervous system that had not been seen before.

Mouse NMJ compared to Human NMJ

The neuromuscular junction (NMJ) plays a fundamental role in transferring information from nerve to skeletal muscle, enabling us to move. We know surprisingly little about these junctions in humans and current studies rely on ‘model’ mice and rats. Ethical considerations and the logistics of obtaining biopsy material from healthy individuals during life make it difficult to obtain tissue samples for analysis.

A research team - led by the University of Edinburgh - were able to collect healthy tissue from 20 donors undergoing surgical amputation. This enabled them to use cutting-edge imaging to study 3,000 of these cell connections.

The study revealed details of the anatomy of human NMJs that had not been seen before. It showed that the structure and make up of human NMJs are different from those of mice and rats.

Human NMJs were much smaller and frailer than those found in other mammals and age had no effect on the health of NMJs. This finding could help doctors understand disease-related changes in the nervous system that affect older adults.

Our findings provide unique insights into the structure of the human nervous system, identifying features that set us apart from other mammals. Our next steps will be to use these vital insights to understand how the NMJ breaks down in human patients with neuromuscular conditions such as motor neurone disease.

Tom GillingwaterProfessor of Anatomy at the University of Edinburgh’s Centre for Integrative Physiology

The human nerve connections that we saw – using new microscopy methods crucial for this study – were very different from what was previously thought.

Christian SoellerProfessor of Physical Cell Biology at the University of Exeter’s Physics department and Living Systems Institute

The research team from The University of Edinburgh included scientists from The Roslin Institute, in collaboration with the Universities of Exeter and Dundee.

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Original publication: Cell Reports, V21(9), DOI: http://dx.doi.org/10.1016/j.celrep.2017.11.008