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New Alzheimer’s genes uncovered

04 September 2009

Professor Julie WilliamsProfessor Julie Williams

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 University scientist.

Professor Julie Williams, 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, 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 study, said: "Both CLU and PICALM highlight new pathways 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.

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.

The findings are some of the first to emerge from the University’s new flagship Medical Research Centre (MRC) research centre.

The Centre for Neuropsychiatric Genetics and Genomics at the University – the only MRC Centre of its type in Wales, is aimed specifically at harnessing the genetics revolution for research in mental disorders.

It is also supported by funding from the Welsh Assembly Government’s Wales Office of Research and Development (WORD) and the University itself, totalling more than £4M.

The 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 Centre was opened in April 2009 under the directorship of Professor Mike Owen of the University’s School of Medicine and officially launched by the First Minister.

Professor Mike Owen, School of Medicine, who co-directed the research with Professor Williams said: "These findings are the result of over 15 years hard work by many young scientists and doctors and I'd like to pay tribute to them as well as the many patients and families who have helped us with our work.

"The challenge now is to try and understand how relatively subtle genetic influences like these lead to disease and how we can intervene to stop this happening."

Professor Williams added, "The MRC Centre and 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."

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