By scanning 8 million genetic mutations, a team of 189 researchers succeeded in identifying 11 new genes involved in Alzheimer’s disease.
Gear shift in Alzheimer’s disease! In less than three years, researchers have succeeded in identifying more genes than in the last twenty years. Inserm does not hesitate to assert that this discovery, published in the journal Nature Genetics on October 27, constitutes “a major advance in the understanding of Alzehimer’s disease” and that this is part of “the largest international study ever. performed on Alzheimer’s disease ”.
The scientific community, rather cautious with superlatives, is not showing itself stingy this time when 11 new genes of the disease have just been discovered by the joint research unit (UMR) Inserm-Institut Pasteur de Lille-Université Lille Nord de France “Public health and molecular epidemiology of diseases linked to aging”. These 11 new genes obviously make it possible to better define the genetic profile of people at risk of developing the disease, but it is also a further step towards new drugs that will limit the negative effects of this genetic susceptibility.
The 1st gene identified in 1995
Of course, scientific journals are full of research on the genetic susceptibility of a particular pathology. But, for Alzheimer’s, studies on twins have shown that the origin of this neurodegenerative disease is 60% genetic. “It was in 1995 that the 1er genetic susceptibility gene for Alzheimer’s disease has been discovered, says Prof. Philippe Amouyel, director of joint research unit 744 and co-author of this study. Then, it took 15 years to discover nine more. And there, in three years, 11 other genes were discovered suddenly ”. An acceleration of history which is due to the collaboration of several research teams but also to the evolution of technologies, and in particular to nanotechnologies.
Listen to Prof. Philippe Amouyel, Inserm unit director: “In this study, nanotechnology enabled us to scan no less than 8 million genome mutations. “
The approximately 100 laboratories which collaborated in this work first of all pooled all their data. Thus, they were able to compare 17,000 Alzheimer’s patients to 37,000 non-sick controls and identify the genetic mutations that differentiate them. The statistical power is already enormous but the authors of this work have, in a second step, verified their results by again comparing more than 8,500 patients with 11,312 controls. Very tight mesh of the net in which they will find the 11 genes of Alzheimer’s disease, and 13 others which still have to be controlled.
100 labs and 189 researchers collaborated
Of course, this “mega” genetic analysis provides confirmations, in particular on the role of the Tau and amyloid proteins, but “it allows us to make real discoveries, to come across things that we did not expect,” insists Prof. Philippe Amouyel. Genes from the immune system, for example, seem to play a role in Alzehimer’s disease, as well as in Parkinson’s and multiple sclerosis.
Listen to Prof. Philippe Amouyel : “We didn’t have a priori, we simply compared the genomes. So, we have seen things appear that we did not expect at all, which are targets for future drugs ”.
To dig into the genome of more than 50,000 people, it was of course necessary to put in the means, and in particular in gray matter. Some 189 researchers have collaborated in this genetic hunt. No less than 100 laboratories in 14 countries around the world have therefore taken action. The image of the researcher reclusive in his ivory tower or even his lab has definitely lived. For Philippe Amouyel “making discoveries about the most complicated organ in the human body, all alone in the back of your kitchen, is simply not possible. “
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