Lead author Dr Rita Guerreiro, UCL Institute of Neurology.
Scientists have discovered a rare genetic mutation that increases the risk of Alzheimer's disease. The international team, led by researchers at the UCL Institute of Neurology, studied data from more than 25,000 people and found a link between a rare variant of the TREM2 gene - which is known to play a role in the immune system - and a higher risk of Alzheimer's. The paper, which is published in the New England Journal of Medicine , has major implications for our understanding of the causes of Alzheimer's and the authors believe it is potentially the most influential gene discovery for the disease in the last two decades. Recent advances in technology mean it's now possible to study genes in much more detail, picking up rare mutations of genes that could not be found through other methods. The precise causes of Alzheimer's are still unknown, but the disease is likely to be the result of a complex mix of genetic and environmental factors. While some genes that increase the risk of Alzheimer's have been found previously, these discoveries did not explain all of the genetic risk. Therefore the researchers in this study set out to uncover some of the rarer genetic variants involved in Alzheimer's, in a bid to get a clearer picture of what causes the disease.
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