Alzheimer’s. These researchers from Rouen make an important discovery about the disease

Researchers from Rouen and Lille have collaborated to identify new genes whose mutations would increase the risk of developing Alzheimer’s disease. (©Adobe Stock/Illustration)

Rouen always at the forefront of early Alzheimer’s research. An international team of researchers* led by pr. Gaël Nicolas from the CHU and University of Rouen and Dr. Jean-Charles Lambert of Inserm Lillediscovered genetic variations that may play a role in the development of the disease. This discovery was the subject of a publication in the journal Natural genetics November 2022.

Genes promoting early Alzheimer’s

“Since the 1990s, we have been researching the genetics of Alzheimer’s disease,” recalls Professor Nicolas 76 currently. It is indeed in Rouen that we find one reference center in young Alzheimer’s patients. Objective : find the risk factors of the early development of the disease.

Deja in 2012 and the following years, the center’s team was able to identify rare mutations in three genes that increase this risk. This year, therefore, “two new genes have been identified in which certain rare mutations strongly increase the risk of developing Alzheimer’s disease”.

Researchers have for this 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,” explains Professor Nicolas. “We then fed them into a supercomputer that examines the exomes, the heart of the genetic code, which produces proteins. »

Important implications for research

“By specifically studying the DNA regions that code for proteins in our body (exons), researchers have been able to determine this a map of rare variations harmful substances that may alter 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, and this effect is even greater in the early forms of the disease,” a press release from the University of Rouen describes. In addition to the two identified genes, a third would also be, but this has yet to be confirmed.

This has implications for basic research and helps us understand the mechanisms of Alzheimer’s disease.

Professor Gael NicolasPU-PH in Genetics at CHU and University of Rouen

In concrete terms, this means for the researcher “that we are on the right therapeutic track because some of these identified genes are involved in the production of amyloid beta’, a protein that can form plaques in the brain that is suspected to cause Alzheimer’s disease according to a 1992 theory.

The discovery of rare mutations in identified genes also makes it possible understand the “puzzle” better, 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 could put them at risk of developing Alzheimer’s disease. »

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Then perhaps we can analyze the puzzle of non-diseased people and consider preventive treatment if they exhibit these high-risk combinations. These are long-term perspectives, but we are moving forward one step at a time.

Professor Gael NicolasPu-PH in genetics at the University Hospital and the University of Rouen

The next steps are therefore the identification of new genes that are likely to contain rare mutations and then to understand their interactionsto “determine why it gives the disease in one person and not in others”.

In France, Alzheimer’s disease affects approx 1.2 million peopleof which 4% before the age of 65.

*This study 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’s Patients of the University Hospital of Rouen and a team from the Amsterdam CHU VUMC directed by Henne Holstege.

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