Research Supervisor Connect
We have identified a gene, CYLD, that when mutated causes dementia and motor neuron disease (MND), diseases that are currently incurable. This project will investigate the effects of CYLD mutations on cell survival and examine how CYLD interacts with proteins known to be involved in FTD and ALS. By understanding how CYLD interacts with other proteins in the body, this project will identify new targets for developing treatments.
Camperdown - Brain and Mind Centre
Frontotemporal dementia (FTD), a common cause of early-onset dementia, is characterised by behavioural and/or speech changes followed by progressive cognitive deficits arising from degeneration of nerve cells (neurons). FTD shows significant clinical and pathological overlap with motor neuron disease (MND), a rapidly progressive neurodegenerative disorder. There are no effective cures for FTD or MND. Our understanding of FTD and MND has been greatly enhanced by identifying the genes and pathways that underlie the neurodegenerative process. We recently identified a new genetic cause of FTD and MND: a mutation in CYLD.
Using molecular biological and cell culture techniques, the aims of this project are: to determine whether other CYLD gene variants identified in FTD, MND and Alzheimer’s disease patients are pathogenic; to examine CYLD binding to and processing of other known FTD and MND genes; and to identify CYLD targets affecting nerve cell survival. Understanding the biological pathways that lead from CYLD mutation to cell death will help uncover the underlying pathogenic mechanism and help understand how these could be targeted as a treatment for these disorders.
The opportunity ID for this research opportunity is 3337