Brain Research Trust

Analysis of Recessive Alzheimer's disease

Thousands of blood DNA samples from Alzheimer's cases are stored at the Dementia Research Centre at Queen Square. The objective of this project is to fund a study into one thousand of these individual DNA samples, using a core technique known as Genome Wide Association (GWA). Each test costs £100. A sample of 1,000 is needed for a thorough study into the causes of early-onset Alzheimer's disease.

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It ran from 4:00 PM, 11 June 2015 to 4:00 PM, 11 June 2015




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A small proportion of Alzheimer cases get the disease at a very young age… approximately between 30 to 55 years of age. About half of these cases simply inherit the disease from one of their parents (this is called autosomal dominant inheritance). In these cases, our group and others have found that mutations in one of three genes, the amyloid or presenilin 1 and 2 genes, is the cause of the disease. All of these genes are involved in the production of a protein called amyloid. This amyloid builds up and appears to cause the disease. However, in the other half of the cases, we still do not know what causes the disease, as typically, these individuals do not have a strong family history of the condition. We suspect that they may develop the disease because they inherit defective genes from both parents (this is called autosomal recessive inheritance) and that the genes involved may be involved in the clearance of amyloid from the brain. Previously, we were not able to easily test this hypothesis and find the genes, but now, because of new gene screening technology, we can do this for the first time. We propose to use this new gene chip technology on DNA samples collected from the several hundred cases of early onset Alzheimer’s disease collected by the Dementia Research Group at Queen’s Square to see if we can prove our theory. If it is correct, it will immediately lead us to a cause of Alzheimer’s disease and point us to the enzymes that are involved in amyloid breakdown. This will be invaluable to our search, not only for an understanding of the disease process, but also, for best treatment.