A new gene for Alzheimer’s disease


A recent publication in Nature reports a new risk gene for Alzheimer’s disease. The study, led by Professor Alison Goate at Washington University in St Louis, USA, also involved several members of the MRC/Wellcome neurodegenerative disease consortium. By sequencing the entire exome (all of the DNA in the human genome that codes for proteins), the researchers were able to identify very rare changes in a gene called Phospholipase D3 that dramatically increased the risk of developing Alzheimer’s disease. They also found that decreasing Phospholipase D3 in cells caused an increase in Abeta secreted by these cells – a key observation as Abeta is one of the proteins that forms sticky, amyloid clumps in the brains of people with Alzheimer’s and is thought to be closely involved in the processes that lead to cell death. Professor John Hardy, based at the UCL Institute of Neurology in London and part of the team behind the discovery, said: “The harvest of new genes identified by whole genome technologies continues.  The simplest interpretation of the new genes is that they are involved in amyloid production, like this new gene PLD3, or part of the response process to amyloid deposition, like the last gene we found, TREM2.”

Read more about phospholipase D3 and how it is involved in Alzheimer’s on the Nature website:



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