A version of a gene linked to key Alzheimer’s protein


By Alex Smith | Friday 22 November 2019

Journal of Neuropathology & Experimental Neurology: Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene

Researchers in the US have identified a version of a gene associated with an increased level of the Alzheimer’s protein tau in the brains of people with the disease. The scientific publication Journal of Neuropathology & Experimental Neurology publish the findings today (Thursday 21 November).

Targeting tau

Tau is one of the hallmark Alzheimer’s proteins. During the development of Alzheimer’s disease, tau protein accumulates and tangles in the brain. It is thought this tangling of tau is toxic to nerve cells and causes brain cells to die.

What our expert said

Dr James Connell, Research Manager at Alzheimer’s Research UK, said:

“Alzheimer’s is a disease and genetic risk factors play a role in its development. For most people with Alzheimer’s no single gene is responsible for the disease, rather a combination of factors play a role in influencing a person’s risk.

“In this study, researchers found an association between a version of a gene called MUC6 and a build-up of the hallmark Alzheimer’s protein tau. The findings don’t tell us if this genetic variant caused  tau tangles. We need to see further detailed investigations to study the role this gene may be playing in the development of Alzheimer’s. This will help fill gaps in our knowledge, which Alzheimer’s Research UK has recently identified as a barrier to progress in dementia research.

“While we can’t change the genes we inherit, research shows that changing our lifestyle can help to support a healthy brain. The best current evidence suggests that, as well as staying physically and mentally active, eating a healthy balanced diet, not smoking, drinking only within the recommended limits and keeping weight, cholesterol and blood pressure in check are all good ways to support a healthy brain as we age.”


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Alex Smith