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Furthering the genetics of frontotemporal dementia

Funder: UK Research and InnovationProject code: G0400356
Funded under: MRC Funder Contribution: 324,090 GBP

Furthering the genetics of frontotemporal dementia

Description

The proportion of elderly people in our society is increasing. As a result there is an increase in the number of people with age related degenerative diseases that cause dementia. It is known that dementia, in certain circumstances, can be inherited and run in families. Approximately 750,000 people in the UK have some form of dementia, the most common and widely known is Alzheimer?s disease. Thankfully, a lot of progress has been made in understanding the genetic cause of Alzheimer?s disease. The second most common form of dementia is called frontotemporal dementia or FTD. It can affect people?s behaviour and ability to speak. About half of all people with FTD have other family members with this disease, therefore, there is a large inherited (genetic) reason for the development of this disease. We know around 10% of cases of FTD are caused by errors in a gene called tau, however, we know nothing about the remaining 90%. There are reports of families with FTD showing there is a gene problem on chromosome 17, where the tau gene lies. However, nobody has been able to find any errors in the tau gene in these families. I will analyse the entire tau gene, more thoroughly than has been done before, and will check nearby genes to identify the disease causing error. The second part of my project is as follows; By testing a large collection of FTD patients collected from around Manchester I have shown there is a gene causing FTD with motor neuron disease on chromosome 9, consistent with a report from the US. By identifying common regions of chromosome 9 shared by patients from Manchester, and screening the genes within these regions, I hope to identify the disease-causing gene. Finally, it has been reported that errors in a gene called VCP can cause a bone disease and FTD in some patients. I will screen the Manchester FTD patients to see if VCP is causing disease in any of them. In summary, it is important to find genes causing FTD because it is a common form of dementia with a large genetic component to its cause. By identifying these genes we will find the primary cause of, and gain understanding to, the biological problem reason of disease. This knowledge will help in diagnosis and in the development of systems to produce a treatment, which will ultimately help people affected by this illness.

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