Researchers have identified that the presence of two new genes strongly increases the risk of developing Alzheimer’s disease.
In France, more than 900,000 people are affected by Alzheimer’s disease. It is the most common form of neurodegenerative disease. While there is still no treatment to get rid of the disease, research is advancing rapidly to develop ways to detect this disease early.
Like an international team of researchers, led by Pr Gaël Nicolas from the CHU and the University of Rouen and Dr Jean-Charles Lambert from Inserm in Lille. As reported by the site 76 Actu, scientists have discovered genetic variations that may be involved in the development of Alzheimer’s disease. The findings were published in November 2022 in the journal Nature Genetics.
Since the 1990s, researchers have been working on the genetics of Alzheimer’s in Rouen. The city is also a unique reference center for young Alzheimer’s patients. After having identified rare mutations of three genes in 2012, the researchers have just highlighted the presence of “two new genes, certain rare mutations of which strongly increase the risk of developing Alzheimer’s disease”.
Better understand genetic factors
To reach this conclusion, the researchers analyzed the genetic data of more than 30,000 people. Half of the panel had Alzheimer’s disease. “Then, we entered them into a super computer which examines the exomes, the heart of the genetic code, which produces the proteins”, explains a press release issued by the University of Rouen. Before adding: “They were able to validate the involvement of rare variants in the SORL1, TREM2 and ABCA7 genes, but also identify two new major genes, ATP8B4 and ABCA1, while a last one, ADAM10, remains to be confirmed. Some variations rare genetics 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”.
These results provide a better understanding of the genetic factors of Alzheimer’s disease. “They offer a better understanding of the biological mechanisms involved and make it possible to open up new lines of research on more relevant in vitro and in vivo models targeting these new genes”, write the researchers. A step towards the implementation of new strategies in therapeutic research.
