Using new gene therapy approach to aim to restore the activity of two genes that are affected by TDP-43 changes in MND.
Principal Investigator: Dr Puja Mehta
Lead Institution: University College London
MND Association Funding: £99,785*
Funding dates: August 2024 - August 2025
*Supported by the MND Association Guernsey Branch and Group
About the project
It is thought that in around 97% of cases of MND, a protein called TDP-43 moves from the nucleus (the control centre of the cell where it usually functions) to the cytoplasm (the liquid that fills the rest of the cell) and forms clumps. TDP-43 is needed in the nucleus as it helps to regulate the production of healthy proteins from our DNA but when it moves to the cytoplasm, there is a reduction in the production of healthy versions of some important proteins. Two of the proteins affected by this in MND are Stathmin-2 (a protein important for motor neuron growth) and UNC13a (in which abnormalities are linked to faster disease progression). This project will use a new gene therapy approach to aim to restore the levels and functions of these two proteins. The researchers will test this approach in cell and mouse models of MND to see whether this possible new gene therapy is able to increase levels and restore functions of these two proteins and if it has any effect on the health of the motor neurons.
What could this mean for MND research?
This research could lead to the discovery of a new gene therapy that could help to correct some of the toxic effects that result from faulty TDP-43 in MND. This could help to improve the health of motor neurons and reduce the damage caused by the disease. The investigation of this gene therapy could reveal a potential new treatment strategy which could be further developed and tested to see if it could benefit around 97% of people with MND.
Project code: 893-791
