Researchers identify the new genes involved

Researchers have determined that having two new genes strongly increases the risk of developing Alzheimer’s disease.

More than 900,000 people in France suffer from Alzheimer’s disease. It is the most common form of neurodegenerative disease. While there is still no cure for the disease, research is progressing rapidly to develop ways to detect this disease early.

An international team of researchers led by Professor Gael Nicolas of CHU and Rouen University and Dr Jean-Charles Lambert of Inserme in Lille represented the team. As reported by the site 76 newsScientists have discovered genetic variations that may be involved in the development of Alzheimer’s disease. The results were published in November 2022 in the journal Nature Genetics.

Since the 1990s, researchers have been working on the genetics of Alzheimer’s disease in Rouen. The city is also a unique reference center for young Alzheimer’s patients. After identifying rare mutations in three genes in 2012, researchers highlighted the presence of “two new genes, some rare mutations that strongly increase the risk of Alzheimer’s disease.”

Better understanding of genetic factors

To come to this conclusion, the researchers analyzed the genetic data of more than 30,000 people. Half of the participants had Alzheimer’s disease. “Next, we inserted them into a supercomputer that scans the exomes, the heart of the genetic code, that produce the proteins,” explains a press release from Rowan University. Before adding: “They were able to verify the involvement of rare variants in the SORL1, TREM2 and ABCA7 genes, but also identified two new major genes, ATP8B4 and ABCA1, while another, ADAM10, remains unconfirmed. Some of the rare variants are linked to genes in these Genes significantly increase the risk of developing the disease, and this effect is more pronounced in early forms of the disease.

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These findings provide a better understanding of the genetic factors of Alzheimer’s disease. “They provide a better understanding of the biological mechanisms involved and make it possible to open new lines of research on more appropriate in vitro and in vivo models targeting these novel genes,” the researchers wrote. A step towards implementing new strategies in therapeutic research.

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