Genetic mutations may provide natural defense against Alzheimer’s

| | February 12, 2020
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A set of genetic mutations may protect against Alzheimer’s, research suggests.

The memory-robbing disease is poorly understood, with few known causes beyond age and a family history of the condition.

To learn more, scientists from University College London (UCL) analysed the DNA of 10,000 people, half of which had Alzheimer’s.

The team found people were less likely to develop the disease if they had a class of genetic variants that reduce the function of the proteins tyrosine phosphatases.

These proteins are known to impair cell signalling, which is important for cell survival.

“These results are quite encouraging,” lead author Professor David Curtis said.

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“It looks as though when naturally occurring genetic variants reduce the activity of tyrosine phosphatases then this makes Alzheimer’s disease less likely to develop, suggesting drugs which have the same effect might also be protective.”

The scientists also found if genetic variants damage the gene behind the signalling pathway – known as PI3K/Akt/GSK-3β – the Alzheimer’s risk may rise.

“There is a consistent story in our results that the activity of the PI3K/Akt/GSK-3β signalling pathway is protective, which is exactly in line with findings from animal studies,” Professor Curtis said.

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