Role of axonal transport in cell models carrying MND mutations

Establishing whether axonal transport deficits in fast motor neurones are a general feature of MND, by comparing different MND models, including rodent and human motor neurones.

Principal Investigator: Dr Andrew Tosolini

Lead Institution: University of Queensland (formerly University College London)

MND Association Funding: £142,423*

Funding dates: November 2021 - December 2025

*Supported by The Lady Edith Wolfson Fellowship Programme, the Batchworth Trust, the Payne-Gallwey Charitable Trust, the Edwin George Robinson Charitable Trust, the Inman Charity and the Sylvia Aitken Charitable Trust.

About the project

Healthy motor neurons work by transmitting signals from the brain and spinal cord to muscles to allow us to move, speak and breathe. This relies on a complicated process known as ‘axonal transport’, which refers to the movement of important molecules and organelles (subunits of a cell that have specific functions) up and down motor neuron cells. When people have MND, this transport process doesn’t work as well so the molecules and organelles that cells normally need to survive get stuck in the wrong places. Dr Tosolini’s research, which uses motor neurons developed from people with MND or from mice, will focus on understanding this process, and how it might be restored to normal.

What could this mean for MND research?

This project aims to discover novel changes occurring in MND that may contribute to the development and progression of the disease. Through the use of both human cell models and mouse models of MND, the researchers are able to see how axonal transport may change in three different genetic forms of the disease and establish if there are common disruptions in the process between these. The project may help to reveal new targets for future therapies as any deficits found in axonal transport could be potentially be reversed to restore the process.

"The awarding of the Junior Non-Clinical Fellowship has enabled me to continue researching MND and drive scientific discovery forwards. I am extremely grateful for the opportunity that the MNDA has given me to continue to drive MND research"

Project code: 973-799