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New Alzheimer’s genes revealed

21 May 2010

Professor Julie WilliamsProfessor Julie Williams

An international collaboration of scientists, including expertise from Cardiff University, has uncovered two new genetic variations linked with Alzheimer’s, opening up new research avenues into the disease.

The two newly discovered genetic variations do not predict a person’s risk of developing Alzheimer’s, but the authors of the paper, which appears in The Journal of the American Medical Association (JAMA) speak of new valuable insights for scientists working on the disease. Professor Julie Williams, Cardiff University, is a principal investigator of the study, led by Professor Monique Breteler, University Medical Center Rotterdam. The research also builds on the discovery led by Professor Williams last year of the first new genes associated with Alzheimer’s in a generation

Using an intensive, genome-wide association analysis study, the researchers identified two new genes at specific locations in the DNA called loci that reached the required genome-wide statistical significance threshold for the first time, thus identifying them as very likely to be associated with Alzheimer’s Disease.

Professor Williams, School of Medicine and Chief Scientific Advisor to the Alzheimer’s Research Trust said: "This is an important step forward for Alzheimer’s disease and should inspire more work towards understanding how these genetic variations are involved in the disease process. Most importantly for dementia researchers worldwide, these findings might expose new targets for treatments.

"Two genes are implicated. One, BIN1, was identified last year, and compelling evidence in this new study now confirms its involvement. What is interesting is that this gene has almost the same function as a susceptibility gene identified last year, PICALM. Both regulate how large molecules are taken into and are transported within cells. Together they highlight a process that was not previously known to be involved in Alzheimer’s disease. This is exciting news as it gives us new lines of enquiry and new targets for future therapies.

"We have a long way to go but with enough investment in research, new treatments for this devastating disease are becoming possible."

Rebecca Wood, Chief Executive of the Alzheimer’s Research Trust said: "These significant findings represent another important piece of the Alzheimer’s puzzle. A new research journey has begun, and armed with this latest information, scientists can begin understanding how the genetic variations are involved in the disease.

"Over 820,000 people live with dementia in the UK, a number forecast to rise as the population ages. We must invest in research now to find the treatments we so desperately need."

The research is supported by the MRC, Wellcome Trust and the Welsh Assembly Government amongst others.

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