International scientists including researchers at Cardiff University, UK and the University of Pennsylvania, USA have discovered five genetic variations associated with Alzheimer's disease. The findings are published in two papers in the journal Nature Genetics.
The studies, led by Professor Julie Williams at Cardiff University's MRC Centre for Neuropsychiatric Genetics, and Professor Gerard Schellenberg at the University of Pennsylvania's School of Medicine compared the genetic makeup of tens of thousands of people with Alzheimer's disease to healthy volunteers.
Together, the studies uncovered five genetic variations associated with the common form of Alzheimer's disease, affecting people over 65 years old, bringing the total to ten. The variations discovered are in genes that are involved in the immune system, the way our brains deal with cholesterol and how cells absorb and use large molecules.
The findings should help researchers focus on the causes of Alzheimer's disease and provide new treatment targets. It is not thought that the genetic variations have a large effect on a person's risk of developing Alzheimer's, but genetic susceptibility combined with lifestyle, environmental factors and ageing are all thought to be involved in causing Alzheimer's disease.
Professor Williams said: 'What's exciting about our findings is that the genetic variations we've found all fit together. Five of the recently identified genes all have a role to play in the immune system. Four have functions at the cell surface and three are involved in moving fats around inside our cells. It's likely that these processes have a key role to play in causing Alzheimer's disease'.
'It's an exciting time for genetic research. Modern technology has allowed us to complete this work and we're really getting to the crux of what causes Alzheimer's. We hope this will give us valuable new leads in the hunt for effective treatments'.
Rebecca Wood, Chief Executive of Alzheimer's Research UK, which part-funded the study, said: 'UK scientists are leading the field in our understanding of the genetics of Alzheimer's. These findings are a step towards defeating dementia. We are yet to find ways of halting this devastating condition, but this work is likely to spark off new ideas, collaborations and more research'.
