The genetics of frontotemporal dementia

March 19, 2014, University of Manchester

(Medical Xpress)—Professor Stuart Pickering-Brown, a world expert in the disease from the University of Manchester, will shed new light on a gene that causes the disease on Tuesday (25 March) at Alzheimer's Research UK Conference 2014 in Oxford. The study has revealed new information about some of the features of the disease.

Alzheimer's Research UK is the UK's leading dementia research charity, funding more than £20m of pioneering research into the condition across the UK. The charity's annual conference, which takes place on 25 and 26 March, is the largest of its kind in the UK and will see leading scientists share their progress in the drive to defeat dementia.

Prof Pickering-Brown and his team are investigating a gene called C9orf72, which has been implicated in the development of (FTD). This relatively rare form of dementia, which usually affects people under 65, causes including personality and behavioural changes, loss of ability to reason, and problems with language.

Up to 40% of people with FTD have an inherited form of the disease, and it's thought around 9% of cases in the UK are caused by a faulty version of the C9orf72 gene. Earlier research has shown that this gene produces repeated called 'dipeptides', and the team in Manchester is investigating whether these are involved in causing the disease. Using state-of-the-art techniques, the researchers have been able to reproduce these protein fragments in cells in order to study them in the lab. Their research has shown that the fragments accumulate inside cells, and the team is now working to understand whether they are harmful to cells.

Professor Pickering-Brown said: "To be able to develop new treatments for people with FTD, it's important to understand the biological mechanisms involved in the disease. The faulty gene we are studying has a number of different biological effects, and we want to understand which of these play a role in the disease, and how. By recreating some of the effects we see in the brain, our team has been able to produce a valuable tool to help us solve this difficult puzzle. Importantly, our research could also enable us to test the effects of potential new treatments for the disease in the future."

Dr Simon Ridley, Head of Research at Alzheimer's Research UK, said: "When this faulty gene was revealed as one cause of FTD, the discovery raised a number of important questions about how the gene causes damage, and how this damage could be stopped. This useful study has begun to answer some of those questions and opened new avenues for research. It will now be essential to follow up this research to understand how these protein fragments may be involved in FTD, and whether treatments designed to target them could have a beneficial effect. For results like these to be translated into benefits for people, it's crucial that we continue investing in research."

Explore further: RNA build-up linked to dementia and motor neuron disease

Related Stories

RNA build-up linked to dementia and motor neuron disease

October 30, 2013
A new toxic entity associated with genetically inherited forms of dementia and motor neuron disease has been identified by scientists at the UCL Institute of Neurology. The toxin is the result of a genetic mutation that leads ...

ALS-linked gene causes disease by changing genetic material's shape

March 5, 2014
Johns Hopkins researchers say they have found one way that a recently discovered genetic mutation might cause two nasty nervous system diseases. While the affected gene may build up toxic RNA and not make enough protein, ...

Bath scientists find clues to dementia and Parkinson's

November 7, 2013
A research team from our Department of Biology and Biochemistry has identified a possible target to reduce the levels of a protein called alpha-synuclein – linked to both Parkinson's disease and dementia with Lewy bodies.

Identification of abnormal protein may help diagnose, treat ALS and frontotemporal dementia

February 12, 2013
Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, and frontotemporal dementia (FTD) are devastating neurodegenerative diseases with no effective treatment. Researchers are beginning to recognize ALS and FTD as ...

Researchers identify variation in gene PLD3 can increase risk of late-onset Alzheimer’s disease

December 24, 2013
(Medical Xpress)—A new study, part-funded by the Medical Research Council (MRC), the Wellcome Trust and Alzheimer's Research UK, has shown that a fault in a gene called phospholipase D3 (PLD3) can contribute to the overproduction ...

Recommended for you

Energy storehouses in the brain may be source of Alzheimer's, targets of new therapy

January 23, 2018
Alzheimer's disease, a severely debilitating and ultimately fatal brain disorder, affects millions worldwide. To date, clinical efforts to find a cure or adequate treatment have met with dispiriting failure.

Rocky start for Alzheimer's drug research in 2018

January 19, 2018
The year 2018, barely underway, has already dealt a series of disheartening blows to the quest for an Alzheimer's cure.

Alzheimer's disease: Neuronal loss very limited

January 17, 2018
Frequently encountered in the elderly, Alzheimer's is considered a neurodegenerative disease, which means that it is accompanied by a significant, progressive loss of neurons and their nerve endings, or synapses. A joint ...

Anxiety: An early indicator of Alzheimer's disease?

January 12, 2018
A new study suggests an association between elevated amyloid beta levels and the worsening of anxiety symptoms. The findings support the hypothesis that neuropsychiatric symptoms could represent the early manifestation of ...

One of the most promising drugs for Alzheimer's disease fails in clinical trials

January 11, 2018
To the roughly 400 clinical trials that have tested some experimental treatment for Alzheimer's disease and come up short, we can now add three more.

Different disease types associated with distinct amyloid-beta prion strains found in Alzheimer's patients

January 9, 2018
An international team of researchers has found different disease type associations with distinct amyloid-beta prion strains in the brains of dead Alzheimer's patients. In their paper published in Proceedings of the National ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.