Alzheimer’s, 75 genetic risk factors identified

An international team of scientists has managed to identify 75 genetic risk factors involved in Alzheimer’s disease. This is a highly relevant finding since 42 of the identified factors had not been previously related to the disease, so the results open new avenues for its treatment and diagnosis.

The research, published in Nature Genetic, has been carried out by researchers from the European Alzheimer’s & Dementia Biobank (EADB), with the leadership of the centers in Spain by Ace Alzheimer Center Barcelona, ​​an entity dedicated to the diagnosis, treatment and research of the disease of Alzheimer, and with the participation of the CIEN Foundation (Center for Research into Neurological Diseases). The study reveals two elements that intervene in the development of Alzheimer’s disease: on the one hand, a dysfunction in the immune system and, on the other, microglia, a type of central nervous system cell that eliminates toxic substances. In turn, researchers have reaffirmed the involvement of two pathological processes related to beta-amyloid and tau proteins in the development of the disease. For Dr. Agustín Ruiz, geneticist, scientific director of the Ace Alzheimer Center Barcelona and current coordinator of the Spanish Dementia Genetics Consortium (DEGESCO), we are in “a new era of research: genetics will allow us to approach the disease to to be able to find new therapeutic targets and advance in the design of personalized treatments». For this reason, it considers it crucial to continue promoting and coordinating this type of research in which a large number of human DNA samples from all over the planet are concentrated. Genetic risk scoring systems and new advances in blood markers and ‘digital markers’, he explains, will be “a turning point in the diagnosis and treatment of these diseases, allowing greater precision and earlier Therapeutic interventions are under way. Dr. Adolfo López de Munain, clinical neurologist and scientific director of CIBERNED, also considers that research reflects “the scientific potential of research groups when they come together in pursuit of a common goal” Both centers, Ace Alzheimer Center Barcelona and Fundación Cien are the promoters of the national dementia genetics consortium GR@ACE (Genome Research at Ace) / DEGESCO, an initiative that brings together the main national centers and is articulated within the framework of CIBERNED (Network Biomedical Research Center for Neurodegenerative Diseases to which 35 of the researchers who developed the study belong). In Spain, according to data from the Ministry of Health, there are currently more than 800,000 cases of Alzheimer’s and it is estimated that by 2050 they will have doubled. Likewise, according to the World Health Organization, Alzheimer’s is one of the main global health problems and affects more than 55 million people in the world, being the most common dementia. It is estimated that the figure will increase to 78 million affected in 2050. 

Alzheimer’s: genetic factors

 Along the same lines, there is a study carried out by Ace Alzheimer and the University of Washington in which scientists have established a genetic risk scoring system to better assess which patients with cognitive impairment will develop the disease in the following three years Alzheimer’s. Published in the journal Translational Psychiatry, of the Nature group, scientific research allows us to continue expanding our knowledge of this pathology, since today the cause has not been identified and there is no cure. This study demonstrates for the first time that consanguinity is a risk factor for the development of Alzheimer’s disease. If a genetic analysis can currently analyze the DNA of a person who lived thousands of years ago, it is because thanks to technological advances we are able to identify our genetic origin up to hundreds of years ago. Ace Alzheimer explains on his website. It is this same technology that has allowed a group of researchers from the Ace Alzheimer Center Barcelona to detect, in a group of people with no current family relationship, a percentage of cases of consanguinity, that is, cases in which the people analyzed are descendants of unions between relatives, even if they are so distant that these people are unaware of it. Thus, in the study that has just been published, the researchers have been able to observe that, of the total number of cases studied, people with high rates of consanguinity would have a 12% greater probability of developing Alzheimer’s. This means that more consanguineous people are found among people with Alzheimer’s than in the general population. This makes it the largest analysis to date on the role of consanguinity in this neurological disease. As a singular fact, the study has looked for consanguinity in people without close kinship, that is, people who are not related to each other, thus overcoming a technical challenge of this type of study, generally carried out in family groups.

The GR@CE project

The GR@ACE project aims at integrative bioinformatics, personalized medicine and the identification of new possible treatments. From a clinical point of view, the impact of genomic technologies on diagnosis and the ability to predict it is proving to be of great importance. During the first phase of the GR@ACE project, a full genome scan was performed on the existing samples in the Ace collection, which, with more than 10,000 blood samples, is the largest in Europe. GR@ACE, promoted by Ace Alzheimer Center Barcelona for more than 5 years, also has the support of Grifols and the “la Caixa” Foundation. In addition, this genomic research project has received five direct grants from competitive funds from the Carlos III Health Institute and the Neurodegenerative Diseases Network Biomedical Research Center (CIBERNED)

Ace Alzheimer Center Barcelona, ​​a pioneering model

Ace Alzheimer Center Barcelona, ​​an innovative and benchmark entity in Spain, was born in 1995 with the aim of meeting the growing demand for the diagnosis and treatment of people with cognitive impairment and dementia, especially Alzheimer’s, offering personalized care and comprehensive support to patients and their families. Ace is considered one of the international benchmarks in research, especially in clinical, neuropsychological, social and basic research. 

About the CIEN Foundation 

The CIEN Foundation is a public foundation dependent on the Ministry of Science and Innovation through the Carlos III Health Institute. Its main object of work is research on Alzheimer’s disease and other dementias, based on a translational approach in which research and the application of scientific results to treatment and diagnosis go hand in hand. The CIEN Foundation allows research on Alzheimer’s disease and other dementias as a priority, with studies such as the Vallecas Project, the Reina Sofía Foundation Alzheimer Center Research Program, and in a complementary manner, research on other neurodegenerative diseases.

Via: EfeSalud (