Motor neuron disease (MND) Research

DNA damage

Pre-clinical

Dissecting the relationship between DNA damage and aberrant RNA metabolism in MND

Professor Rickie Patani, Dr Giulia Tyzack & Professor Simon Boulton, The Francis Crick Institute & UCL

Up to £500,000* | November 2023 - October 2026

Summary: The maintenance of DNA integrity is critical in motor neurons. Healthy cells normally repair DNA damage, which can be caused by various factors. In MND however, Professor Patani and his team have shown that motor neurons face difficulties in repairing DNA, leading to cell damage. 

RNA is a molecule that carries instructions from DNA for controlling protein production. In 97% of MND cases, certain proteins that help with RNA processing, including TDP-43, are mislocalised within the cell, leading to RNA processing errors. Professor Patani and his team hypothesise that these RNA processing errors result in widespread DNA damage and ultimately cause the death of motor neurons. Professor Patani and his team are aiming to better understand the link between DNA damage, RNA processing and MND.

Why this research is important: This research is vital because it delves into one of the potential root causes of MND, DNA damage in motor neurons. By pinpointing how RNA errors contribute to this damage, the project could pave the way for developing new, more effective treatments. 

Read here to learn more about this project.

To find out more about TDP-43, check out our infographic.

*This project is funded by our supporters in Hong Kong and is co-funded by MND Association.

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