In a new study, researchers have identified a class of gene variants that appear to protect against Alzheimer’s disease.
The research builds on previous studies in mice and rats, which suggested inhibiting the function of these proteins might be protective against Alzheimer’s disease, but this is the first time such an effect has been demonstrated in people.
The researchers believe the PI3K/Akt/GSK-3β signaling pathway (a cell signaling pathway for cell survival) could be a key target for therapeutic drugs and the findings also strengthen evidence that other genes could be linked to either elevated or reduced risk of Alzheimer’s disease.
The study was conducted by UCL scientists.
In this study, the scientists analyzed DNA from 10,000 people: half with Alzheimer’s disease and a half without.
In total, they examined all DNA sequence variants in over 15,000 genes, including over one million individual variants, in order to identify genes in which damaging variants were more common in people with or without Alzheimer’s disease.
They found that Alzheimer’s disease risk is lower in people with damaging variants in a particular class of genes, which code for tyrosine phosphatases.
The findings suggest that drugs that have the same effect might also be able to reduce the risk of Alzheimer’s.
There are already some drugs that act on tyrosine phosphatases but they have not yet been tested in clinical trials.
The team suggests that drugs which have the same effect might also be protective.
The study also found suggestive evidence to implicate a gene not previously known to affect Alzheimer’s risk, called C1R. The gene is known to affect periodontal Ehlers-Danlos syndrome, a disease involving chronic gum inflammation.
The lead author of the study is Professor David Curtis (UCL Genetics Institute).
The study is published in the Annals of Human Genetics.
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