The largest association study of the entire genome to date with Alzheimer’s patients has been published, and while its results do not clarify the root of the problem, it does open up a very interesting way for you to come across such a problem. illness. as terrifying as it is difficult. We still don’t know what genetic pathways this disease uses to grow in the brain, now we have good choices on where to start tracking it.

A greedy monster called Alzheimer’s. First described by Alois Alzheimer in 1906, this neurodegenerative disease is the most common cause of dementia in the West today (between 60 and 80% of all dementias) and everything shows that it will continue to grow. It already affects more than a million people in Spain alone, and experts expect the number to triple in the coming decades as the population ages around the world.

Mysterious ways of genetics. Because although we know that the disease has genetic basis, we have not been able to diagnose them yet. We know this is a complex process and clearly multifactorial, but our lack of knowledge at the genomic level is limiting our understanding and treatment of Alzheimer’s.

Therefore, one of the main lines of research is the characterization of genetic risk factors. This will open the door to identifying physiopathogenic processes and designing drugs that can, by rebound, target new therapeutic targets. The problem is, it’s easier said than done.

Largest genomic study to date. In this case, the genome-wide association study (GWAS), coordinated by the French National Institute of Health and Medical Research, analyzed the genomes of 111,326 patients diagnosed and 677,663 people without the disease. With this large amount of data, researchers can uncover commonalities about the disease.

75 regions. The researchers found 75 regions of the genome associated with the disease. But that’s not the most interesting part, the interesting thing is that 42 of them are new. So, there is no previous evidence linking them with Alzheimer’s.

In addition, after examining these regions in the light of our clinical and biophysiological knowledge, the researchers discovered that some of them are involved in the production of amyloid peptides and functional modification of the Tau protein. Two of the phenomena most closely linked to the evolution of disease.

a lot to do. Perhaps the most promising thing about the study is that the team designed a genetic risk scoring system to better assess which patients will develop the disease within three years. This tool is not intended for clinical use (for technical reasons), but will allow for the fine-tuning of future research and the full launch of studies to identify the vulnerabilities of this disease.