Understanding how C9orf72/SMCR8 regulates GABAA receptor and its involvement in C9orf72-related MND and frontotemporal dementia (FTD).
Principal Investigator: Prof Kurt De Vos
Lead Institution: University of Sheffield
MND Association Funding: £187,946
Funding dates: September 2023 - January 2027
About the project
There is evidence that C9orf72 protein helps to regulate the amount and location of GABAA receptor proteins, which are an essential part of communication between neurons. It is thought that mutations in the C9orf72 gene can lead to a reduction in the amount of GABAA receptor proteins in MND. This project will use cells from people with MND and animal models of the disease to investigate how the C9orf72 protein regulates GABAA receptors and how this impacts on the function of the neurons. It will also test existing drugs that interact with the receptors, which are currently used for other conditions, to see if these have an effect on the neurons and if they could be beneficial for those with MND.
What could this mean for MND research?
Understanding the way in which C9orf72 protein regulates GABAA receptors and how this impacts nerve function will increase the knowledge on how C9orf72 related MND progresses, leading to the development of processes for faster diagnoses. The testing of existing drugs in this study will help identify those that are effective on nerves impacted by MND, potentially opening new options for MND treatment.
Project code: 884-791
