Toxic proteins implicated in frontotemporal dementia and motor neurone disease

Scientists at UCL and the Max Planck Institute for Biology of Ageing in Cologne have discovered how a specific genetic mutation may damage nerve cells in frontotemporal dementia and motor neurone disease. The research, which suggests a potential new target for treating the two brain diseases, was funded by Alzheimer's Research UK, the Motor Neurone Disease Association, the UK Medical Research Council (MRC) and the Wellcome Trust. The paper is published on Thursday 7 August in the journal Science . The researchers used fruit flies to better understand the effects of the C9orf72 gene, which has been linked to both frontotemporal dementia (FTD) and motor neurone disease. FTD is a rare form of dementia that causes distressing symptoms such as personality changes, aggression and loss of ability to reason, while motor neurone disease causes muscle weakness and wasting. A faulty version of the C9orf72 gene was recently shown to cause both FTD and motor neurone disease, and is thought to be responsible for roughly 8% of all cases of each disease in the UK. The faulty gene contains a short section of genetic code that is repeated thousands of times.