Two new genes identified that increase the risk of developing Alzheimer's

Spread the love

The research provides data that helps to better understand the biological bases of the disease and postulates two new biomarkers as possible therapeutic targets

 Two new genes have been identified that increase the risk of developing Alzheimer's

Researchers from the Research Institute of the Hospital de Sant Pau (IIB) in Barcelona have participated in the analysis of data from the largest international study to date on the genetics of Alzheimer's risk, which has identified two new genes that increase the risk of developing the disease

The research, which is published in the journal 'Nature Genetics', provides data that helps to better understand the biological bases of the disease and postulates two new biomarkers as possible therapeutic targets.

The study, which has analyzed data from more than 32,000 complete genomes of patients, some contributed by the Hospital de Sant Pau, which represents the largest study of this type that has been done to date in this pathology.

The research has been led by the Amsterdam University Medical Centers , in the Netherlands; The Pasteur Institute in Lille and the University of Rouen Normandie, both in France, with the participation of the IIB Sant Pau as the only center in Spain.

The results of this work have allowed us to conclude that rare genetic variants in five genes -SORL1, ABCA7, TREM2, ATP8B4 and ABCA1-, are associated with a increased risk of developing Alzheimer's disease.

“While this was already known for the first three genes, the finding that harmful genetic alterations in ATP8B4 and ABCA1 can lead to Alzheimer's disease had not been previously observed”, highlighted IIB Sant Pau researcher Oriol Dols-Icardo.

In addition, researchers have found that harmful mutations in a sixth gene -ADAM10– probably also lead to an increased risk of Alzheimer's disease, although the authors have observed very few patients with mutations in this gene. like this Therefore, the association will have It will need to be confirmed by comparing an even larger population of patient genomes and healthy controls in order to classify ADAM10 as an “Alzheimer's gene,” according to Dols-Icardo.

Two new discoveries

All the genes identified in this study are involved in the maintenance of adequate brain health, and the deterioration of any of them is indicative of pathological processes associated with Alzheimer's disease, has explained the researcher.

Previously discovered “Alzheimer's genes”, which are SORL1, ABCA7 and TREM2, are involved in the processing of the β-amyloid protein by neurons or in the brain's immune system, and two newly discovered genes go in the same direction.

The ABCA1 gene maintains healthy levels of cholesterol and phospholipids in brain cells and it is associated with lower levels of aggregated amyloid protein, the accumulation of which in plaques is a hallmark of Alzheimer's disease.

Like ABCA1, the ATB8B4 < gene /strong>is it? ADAM10 gene is involved in the transport of phospholipids, mainly in the immune cells of the brain, whereas the ADAM10 gene has a major role in the processing of the β-amyloid precursor protein, but in such a way that it prevents the formation of this protein.

According to the IIB Sant Pau researcher, these identified genes, together, represent the molecular mechanisms that are most affected in patients with Alzheimer's disease , which helps to improve knowledge of the biological bases of the disease and puts on the table the possibility of investigating these genes as potential therapeutic targets.

Specialists estimate that between 60 and 80% of the risk of Alzheimer's disease can be explained by genetic factors, and in the case of early-onset disease (before age 65) this figure rises to m more than 90%.