The IIB Sant Pau has participated in an article published in the journal <em>Nature Genetics</em> to which 20 countries have contributed. This unprecedented project has analysed more genetic data (94,000 individuals) than any other study to date on Alzheimer’s disease and has led to the discovery of 5 new genes associated with the disease.
The journal <em>Nature Genetics</em> has published the study “Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifi novel risk loci and implicated Abeta, Tau, immunity and lipid processing”, a meta-analysis that has led to the discovery of 5 new genetic variants that influence the risk of suffering from Alzheimer’s disease. This unprecedented project has analyzed more genetic data than any other study of Alzheimer’s disease to date.
The study reveals that the metabolism of the Tau protein, beta amyloid, inflammatory processes and lipid metabolism, would be involved in the pathology. However, it evidences the link that exists between genetically pure forms (typically manifested at early ages and added within the same family) and the forms known as sporadic, which are the most frequent and are characterized by presenting at later ages (after 60 or 65 years).
This finding suggests that some therapies being analyzed for early onset cases may also be useful for late-onset cases. The meta-analysis, which combines and re-evaluates the data collected by four consortia that make up the International Alzheimer’s Genomics Project (Igapó), appears in the journal Nature Genetics, one of the most prestigious journals in the world.
These findings make an important contribution to understanding the causal basis of Alzheimer’s disease and will open up new avenues of treatment for the disease in the future. “In the case of these genetic studies, the ultimate aim is to compare the genomes of patients and controls in order to find those genetic variants that are over-represented in people diagnosed with the disease. To do this, it is necessary to study the genetic material of a large number of subjects, and compare the genome of patients to that of healthy controls. Thanks to the large size of the sample analysed in this study, it has been possible to add new genes to a list that helps us understand the biological and mechanical bases of Alzheimer’s disease”, explains Dr. Jordi Clarimón, researcher at the IIB Sant Pau and national coordinator of the DEGESCO consortium.
The DEGESCO consortium (Dementia Genetics Spanish Consortium)
DEGESCO (Dementia Genetic Spanish Consortium) is a national scientific-technical consortium with 22 research centres from all over Spain, and has the institutional coverage of CIBERNED. DEGESCO was born in 2013 with the general objective of promoting and strengthening the performance of genetic studies in order to understand the genetic architecture of neurodegenerative dementias in the Spanish population, through the implementation of projects and actions coordinated among its members.
It is made up of the following entities: Severo Ochoa Molecular Biology Centre (CBM / CSIC-UAM) (Madrid), Biomedical Research Centre on Neurodegenerative Diseases (CIBERNED), ACE Foundation (Barcelona), CIEN Foundation, Alzheimer Centre – Reina Sofía Foundation (Madrid), Hospital Clínic – IDIBAPS (Barcelona), Hospital La Paz (Madrid), Hospital Marqués de Valdecilla (Santander), Hospital Sant Pau – IIB Sant Pau (Barcelona), Hospital Universitario Central de Asturias (Oviedo), Instituto Biodonostia (San Sebastián), Instituto Biomedicina de Valencia – CSIC (Valencia), Navarrabiomed (Pamplona), Pasqual Maragall Foundation (Barcelona), CITA-Alzheimer Foundation (San Sebastián), Mutua de Terrassa Hospital (Terrassa), Santa María Lleida / IRBLleida University Hospital (Lleida), Ramón y Cajal University Hospital (Madrid), Son Espases University Hospital (Palma de Mallorca), Instituto Andaluz de Neurociencia (IANEC) (Málaga), Instituto o de biomédica na de Sevilla (IBIS) (Sevilla), Hospital 12 de Octubre (Madrid), Centro de Investigación Lascaray UPV / EHU (Vitoria), Hospital de la Princesa (Madrid), Hospital Clínico Universitario Virgen de la Arrixaca (Murcia).
