Toxic repeats in frontotemporal dementia

Frontotemporal dementia (FTD) is a relatively rare form of dementia which usually affects people under 65, often causing personality and behavioural changes.

The most common genetic cause of FTD is a mutation in a gene called C9ORF72. This mutation causes proteins called dipeptide-repeats (DPRs) to clump up in the brain, ultimately leading to a loss of brain nerve cells.

Researchers think that these repeats may disrupt the normal electrical activity of nerve cells, causing them to stop functioning. But exactly how they do this remains unclear.

What will they do?

Dr Matthew Livesey, will use fruit flies that produce DPRs that are very similar to those found in people with the C9ORF72 mutation.

Fruit flies are well suited for this type of study. Around 75% of the disease-causing genes in people are also found in flies. Their short life span is also an advantage when looking at how the activity of genes change over time as the flies age.

Dr Livesey will now look at the physical structure and health of these nerve cells in the flies and record the cells’ electrical signals.

The researchers will also compare the data generated from this study to existing and future data from other studies of people living with FTD.

This Pilot Project aims to give insight into what cell processes are disrupted by the build-up of DPR in the brain. This will increase our understanding of the causes of FTD and could help to identify potential new targets for treatments.