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Genetic research identifies new risk factors and mechanisms for Alzheimer’s

Recent scientific studies have identified new genetic mechanisms that contribute to the development of Alzheimer’s disease. An international research team, including scientists from the University of Eastern Finland and France’s INSERM, published findings in Nature Genetics regarding the PLCG2 gene. Their research indicates that rare loss-of-function variants in this gene can increase the risk of developing Alzheimer’s by approximately ten times.

In a separate study involving mouse models, researchers explored the impact of the APOE4 gene. They discovered that APOE4 increases the production of a protein called Nell2, which causes neurons to shrink and creates hyperactive, abnormal activity in memory circuits long before clinical memory loss occurs. Notably, suppressing Nell2 levels in adult mice reversed these early neuronal changes, suggesting that targeting this protein could provide a pathway for early intervention in the disease.

Entities

Inserm · Nature Genetics · University of Eastern Finland