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Welsh scientist uncovers new Alzheimer’s genes

06 September 2009

The discovery of two new genes associated with Alzheimer's disease could provide valuable new leads in the race to find treatments and possibly cures for the devastating condition, according to a leading Cardiff University scientist.

Julie Williams, Professor of Neuropsychological Genetics at Cardiff University’s School of Medicine, has completed the largest-ever joint Alzheimer's disease genome-wide association study (GWAS) involving 16,000 individuals.

The study, published in Nature Genetics (18:00, Sunday 6th September, 2009), has uncovered two new genes associated with Alzheimer's disease. Previously only one gene, APOE4, had been shown to be a risk factor for Alzheimer's disease. The study reveals, for the first time, that two further genes, CLU and PICALM, are related to Alzheimer's disease.

Professor Julie Williams, who led the major study, said: "Both CLU and PICALM highlight newpathways that lead to Alzheimer's disease. CLU is a clusterin - a type of protein - which normally protects the brain in a variety of ways. Variation in this gene could remove this protection and contribute to Alzheimer's development.

"PICALM is important at synapses - connections between brain cells - and is involved in the transport of molecules into and inside of nerve cells, helping form memories and other brain functions.

"We know that the health of synapses is closely related to memory performance in Alzheimer's disease, thus changes in genes which affect synapses are likely to have a direct effect on disease development."

The study was funded by the Wellcome Trust, Medical Research Council, Alzheimer’s Research Trust and the Welsh Assembly Government.

First Minister for Wales, Rhodri Morgan, has hailed the findings as a ‘feather in the cap’ for Wales’ reputation as a centre for world-class research.

Rhodri Morgan said: "This major breakthrough in the battle to understand and develop treatments for Alzheimer's is good news for the 37,000 people in Wales and their carers who are affected by Alzheimer's or other forms of dementia.

"It is a real feather in the cap of Welsh science that this important global study has been led by a Welsh scientist, Professor Julie Williams and that the Welsh Assembly Government was able to give financial support for her work. World-class research like this will help lead to improved treatment for this distressing disease, and may one day even mean we can cure dementia."

The University-led research also involved scientists from universities in London, Cambridge, Nottingham, Southampton, Manchester, Oxford, Bristol and Belfast, who collaborated with Irish, German, Belgian, Greek and American institutions.

Professor Williams, added, "Research like this is changing our understanding of what causes the common form of Alzheimer's disease and provides valuable new leads in the race to find treatments and possibly cures.

"It also shows that other genes can be identified using this method, and we are already planning a larger study involving 60,000 people, which can be achieved within the next year.

"It is also important to recognise the contribution many Welsh people who have acted as subjects for this research over the years."