Monday, September 7, 2009

Scientists uncover new hereditary links to Alzheimer’s disease

Scientists uncover new hereditary links to Alzheimer’s disease

7 September 2009

Two genes which increase a person’s likelihood of developing the most common form of Alzheimer’s disease have been discovered in the largest-ever study of its kind into the illness. This international study, which received major funding from the Medical Research Council (MRC), is a significant step forward in understanding how Alzheimer’s develops and opens up new areas for further research into potential treatment and genetic screening.

Results from the research, which involved analysing the DNA from over 16,000 people over two years, show the genes CLU and PICALM can play a direct role in the risk of developing Alzheimer’s disease. Until now only one gene, APOE4, had been clearly identified as a potential risk factor. The Genome-Wide Association Study (GWAS) has emerged from the MRC new flagship research centre in Cardiff which is dedicated to genetic research into the disorders of the brain.

Lead author of the study, Professor Julie Williams, said:

“This research is changing our understanding of what might cause the common form of Alzheimer’s disease and could provide valuable new leads in the race to find treatments. If we can combat the detrimental effects of these two genes, we estimate it could reduce the chances of people developing Alzheimer's by almost 20%.”

Sir Leszek Borysiewicz, Chief Executive of the Medical Research Council, said: “Funding work on neurodegenerative diseases is priority for us and MRC investment in this kind of innovative research is crucial in piecing together the Alzheimer’s puzzle. This study is a huge step towards achieving an earlier diagnosis of Alzheimer’s and improving the lives of the many people affected by the disease."

Dr Marie Janson, Director of Development at the Alzheimer’s Research Trust, said:

“These unprecedented findings are the result of collaborations led by funders and scientists alike. Charities including the Alzheimer’s Research Trust and Wellcome Trust enhanced the MRC’s immense contribution to this work, while scientists throughout the UK and around the world shared data, ideas and more to make the study possible. This opens up multiple avenues that could lead to the development of new treatments for this devastating disease.”

The Medical Research Council invested £1.74 million in the programme of research, alongside major funding from the Wellcome Trust, the Welsh Assembly Government and the Alzheimer’s Research Trust, among others.


Data from the GWAS research was shared with a further French-led study, which has revealed compelling evidence for a third gene associated with Alzheimer’s called CR1.


1. The Medical Research Council is dedicated to improving human health through excellent science. It invests on behalf of the UK taxpayer. Its work ranges from molecular level science to public health research, carried out in universities, hospitals and a network of its own units and institutes. The results have led to some of the most significant discoveries in medical science and benefited the health and wealth of millions of people in the UK and around the world.

2. The Genome-Wide Association Study (GWAS) identifies variants at CLU and PICALM associated with Alzheimer’s disease’ by Williams et al is published in Nature Genetics.

3. Both CLU and PICALM highlight new pathways that lead to Alzheimer's disease. The CLU gene produces clusterin which normally acts to protect 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.

4. Professor Julie Williams is Professor of Neuropsychology Genetics at the Medical Research Council (MRC) Centre for Neuropsychiatric Genetics and Genomics based at the University of Cardiff. For more information about the new flagship centre in Cardiff visit:

5. Alzheimer's disease is the most common cause of dementia, affecting around 417,000 people in the UK. Alzheimer's disease, first described by the German neurologist Alois Alzheimer, is a physical disease affecting the brain. During the course of the disease, 'plaques' and 'tangles' develop in the structure of the brain, leading to the death of brain cells. People with Alzheimer's also have a shortage of some important chemicals in their brains. These chemicals are involved with the transmission of messages within the brain

6. Following the establishment of a collaborative consortium between Europe and the United States, the investigation involved researchers from universities in Cardiff, London, Cambridge, Nottingham, Southampton, Manchester, Oxford, Bristol and Belfast, as well as Irish, German, Belgian, Greek and American institutions.

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