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The largest genetic study of Alzheimer’s disease to date has provided compelling evidence of the link between the disease and disruption of the brain immune system.

Important results

Reaching approximately 900,000 people in Francethe disease ofAlzheimer’s is a neurodegenerative condition characterized by a progressive loss of memory and certain key cognitive functions affecting patient autonomy. There is currently no way to cure it, but our knowledge of the mechanisms involved and the risk factors is progressing rapidly.

Although previous research has shown that lifestyle factors such as smoking, exercise and diet influence the risk of developing the disease, 60-80% of this is of genetic origin. Published in the journal Nature Geneticsthis new work involved the analysis of the genomes of 100,000 people with the disease and 600,000 healthy subjects, leading to the identification of 75 genetic risk factors, including 42 entirely new ones.

Observed in the most common forms of the disease, these have been linked to increased activity of immune cells in the brain (the microglia), resulting in the accelerated destruction of brain tissue and neural connections. According to the researchers, the mechanisms involved could be targeted by new treatments.

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Such results are consistent with those of previous studies, having shown that patients with diabetes (which affects the immune system) had a significantly higher risk of dementia, and also suffered from more rapid cognitive decline.

More accurately assess the risk of developing the disease

This unprecedented research also allowed scientists to design a genetic risk score that could help determine which patients with cognitive impairment are most likely to develop the disease within three years of the onset of the first symptoms. .

If the large-scale use of such an approach is envisaged, it could initially facilitate the recruitment of subjects for clinical trials of compounds aimed at treating the disease in its early stages.


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