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Scientists discover gene mutation that may increase the risk of Alzheimer's disease




Highlights:

A gene mutation may increase the risk of Alzheimer's

  • Scientists have discovered a gene mutation that may increase the risk of Alzheimer's disease. The mutation is in the PLCG2 gene, which is involved in the body's immune response.

  • People with the mutation were more likely to develop Alzheimer's disease, and mice with the mutation had more amyloid plaques in their brains. Amyloid plaques are a hallmark of Alzheimer's disease.

  • More research is needed to confirm that the PLCG2 mutation is a cause of Alzheimer's disease, and to develop therapies that target the mutation. However, the discovery of this mutation is a promising step towards developing new treatments for Alzheimer's disease.


Scientists have discovered a gene mutation that may increase the risk of Alzheimer's disease. The mutation is in the PLCG2 gene, which is involved in the body's immune response.

The researchers found that people with the mutation were more likely to develop Alzheimer's disease, and that mice with the mutation had more amyloid plaques in their brains. Amyloid plaques are a hallmark of Alzheimer's disease.

The researchers also found that the mutation reduced the expression of the PLCG2 protein. This suggests that the mutation may disrupt the body's ability to clear amyloid plaques from the brain.

More research is needed to confirm that the PLCG2 mutation is a cause of Alzheimer's disease, and to develop therapies that target the mutation. However, the discovery of this mutation is a promising step towards developing new treatments for Alzheimer's disease.



References:

Andreone, B. J., Przybyla, L., Llapashtica, C., Rana, A., Davis, S. S., van Lengerich, B., Lin, K., Shi, J., Mei, Y., Astarita, G., Di Paolo, G., Sandmann, T., Monroe, K. M., & Lewcock, J. W. (2020). Alzheimer’s-associated PLCγ2 is a signaling node required for both TREM2 function and the inflammatory response in human microglia. Nature Neuroscience, 23(8), 927–938. https://doi.org/10.1038/s41593-020-0650-6

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