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The role of a novel mutant gene in dementia and motor neuron disease


We have identified a new gene that when mutated causes dementia and motor neuron disease (MND), diseases that are currently incurable. This project will examine how this mutated gene affects cell functions to cause nerve cell death, and find out whether people who have more common variants of this gene are at greater risk of developing dementia or MND. This knowledge is crucial for diagnosing and developing therapies for these disorders.


Dr Carol Dobson-Stone.

Research location

Camperdown - Brain and Mind Centre

Program type



Frontotemporal dementia (FTD), a common cause of early-onset dementia, is characterised by behavioural and/orspeech 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 have identified a new disease gene encoding an enzyme involved in autophagy, one of the processes by which unwanted and/or misfolded proteins are removed by the cell.

The aims of this project are to assess the impact of this mutant gene on autophagy and other cellular pathways, using molecular biology and cell culture techniques, and to determine whether rare and common DNA variants of this gene are associated with cognitive performance and disease risk in elderly individuals. Understanding the biological pathways that lead from mutated gene to neuron death and identifying DNA variants that increase disease risk or specific cognitive deficits is important for improving disease diagnosis and identifying new targets for development of a treatment for these disorders.

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Opportunity ID

The opportunity ID for this research opportunity is 2327