By Julien Bottler
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Rouen always at the forefront of research on early Alzheimer’s. An international team of researchers*, led by Pr Gaël Nicolas from the CHU and University of Rouen and Dr Jean-Charles Lambert from Inserm Lillediscovered genetic variations that may be involved in the development of the disease. This discovery was the subject of a publication in the journal Nature Genetics in November 2022.
Genes that promote early Alzheimer’s
“Since the 90s, we have been doing research on the genetics of Alzheimer’s”, reminds Professor Nicolas to 76news. It is indeed in Rouen that we find a single referral center in young Alzheimer’s patients. Objective : find the risk factors of early development of the disease.
Already in 2012 and the years that followed, the center’s team was able to identify rare mutations in three genes that increase this risk. This year, therefore, “two new genes in which certain rare mutations greatly increase the risk of developing Alzheimer’s disease” have been identified.
For this, researchers have crossed the genetic data of more than 30,000 people, half with Alzheimer’s, the other not. “We had French data but also from German, British, Spanish and Dutch colleagues, as well as American data”, specifies Professor Nicolas. “Then we fed them into a super computer that examines the exomes, the heart of the genetic code, which produces proteins. »
Important implications for research
“By specifically studying the regions of DNA that code for proteins in our body (exons), researchers have been able to establish a map of rare variations deleterious substances that potentially modify the biological functions of these proteins. […] Certain rare genetic variations in these genes are associated with a significant increase in the risk of developing the disease, this impact being even more marked in the early forms of the disease”, details a press release from the University of Rouen. In addition to the two identified genes, a third would also be, but this remains to be confirmed.
This has fundamental research implications and helps us understand the mechanisms of Alzheimer’s disease.
Concretely, for the researcher, this “confirms that we are on the right therapeutic track as some of these identified genes are involved in the production of amyloid beta,” a protein that can form plaques in the brain suspected, according to a 1992 theory, of causing Alzheimer’s disease.
The discovery of rare mutations in identified genes also makes it possible to better understand the “puzzle”, in the words of Professor Nicolas, what Alzheimer’s disease is. “These mutations are one piece of the puzzle that causes disease. It does not change the diagnosis or treatment. But, it can identify people who have combinations of genetic factors that would induce a risk of developing Alzheimer’s. »
Subsequently, we may be able to analyze the puzzle of non-sick people and consider preventive treatment if they present these risky combinations. These are long-term perspectives, but we are advancing step by step.
The next steps are therefore the identification of new genes likely to contain rare mutations and then to understand their interactionsto “determine why in one person it gives the disease and in others not”.
In France, Alzheimer’s disease affects approximately 1.2 million peopleincluding 4% before the age of 65.
*This research involved Inserm, the Pasteur Institute of Lille, the University Hospital of Lille, the University of Lille, the University of Rouen Normandy, the National Reference Center for Young Alzheimer Patients of the University Hospital of Rouen as well as a team from the Amsterdam CHU VUMC directed by Henne Holstege.
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