Alzheimer’s: new genes involved in the disease discovered in the immune system of the brain

The research published in Nature Genetics

Three new elements are added to the complex “puzzle” that is the understanding of Alzheimer’s disease. Three new genetic variants, implicated in the development or protection of neurodegenerative pathology, were discovered in the microglia, a group of brain cells that constitute the main immune defense of the central nervous system. This is the result of an international research published by Nature Genetics and developed by more than 450 authors from all over the world, including Benedetta Nacmias and Sandro Sorbi, professors of neurology at the Department of Neurosciences, Psychology, Drug Research and Child Health of the University of Florence (“Rare coding variants in PLCG2, ABI3, and TREM2 implicated microglial-mediated innate immunity in Alzheimer’s disease “doi: 10.1038 / ng.3916).

The study, conducted on more than 85,000 subjects, identified in the microglia a genetic variant (PLCG2) that reduces the risk of Alzheimer’s disease, and two other variants that may increase the risk of contracting the disease: ABI3 and TREM2.

“The outcome of this research, comments Benedetta Nacmias, confirm that brain immune cells, whose role is to dispose of proteins and damaged cells, play an important role in the pathology and provide the protein targets on which we can begin to intervene with drugs”.

“The study, according to Sandro Sorbi, is the proof that microglia cells, which surround the amyloid plaque deposits associated with Alzheimer’s disease, are part of the disease. The challenge of future research will be to understand how and when to hit the microglia and, as a preventive measure, how to influence microglia cells before the onset of cognitive changes.”

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