We know that there is a strong predominance of genetic risk in Alzheimer’s disease. As part of an international collaboration, researchers from the Institut Pasteur de Lille, the University Hospital of Lille and the University of Lille within the “Risk factors and molecular determinants of aging-related diseases” laboratory conducted a vast study on the genome of 111,326 people who have been diagnosed with Alzheimer’s disease or have relatives affected by the disease and 677,663 healthy “control persons”. They were thus able to identify 75 regions of the genome (called loci) associated with Alzheimer’s disease, 42 of which had not previously been implicated in this disease.
“After this important discovery, the rest of our work consisted in characterizing these regions of the genome that we had identified to give them meaning in relation to our biological and clinical knowledge, and therefore better understand the cellular mechanisms and pathological processes at the ‘work”, underlines Jean-Charles Lambert, main author of the study, published in the journal Nature genetics.
Highlighting the disease
In Alzheimer’s disease, two cerebral pathological phenomena have already been the subject of several studies: the accumulation of beta-amyloid peptides and the modification of Tau, a protein, which is found in the form of aggregates in neurons . Analyzes of different regions of the genome confirm the importance of these pathological processes.
“These results confirm and strengthen our knowledge of the pathological processes involved in the disease, and open up new avenues for therapeutic research. They confirm, for example, the interest of conducting clinical trials on treatments targeting the precursor protein of amyloid” underline the researchers.
Source : New insights into the genetic etiology of Alzheimer’s disease and related DementiasNature genomics, April 2022
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