Progress in the knowledge of the genetic causes of Alzheimers The role of the tau protein gene

19 de January de 2020

The Valdecilla Health Research Institute Foundation (IDIVAL) is advancing in the knowledge of the genetic causes of Alzheimer's disease in the Spanish population through the promotion of research projects that the DEGESCO (Dementia Genetic Spanish Consortium) consortium has been developing in the last years.

This consortium, founded in 2013 by doctors Pascual Sánchez-Juan, of the Marqués de Valdecilla University Hospital, and Agustín Ruiz, of the ACE Foundation (Barcelona) with the aim of joining forces in the genetic studies of neurodegenerative diseases, has the institutional coverage of the Center for Biomedical Research in the Network of Neurodegenerative Diseases (CIBERNED) and with 20 associated centers throughout the country.

Dr. Pascual Sánchez-Juan, responsible for the Cognitive Deterioration Unit of Valdecilla and first signatory of the article, has valued the activity of DEGESCO, indicating that it has allowed Valdecilla, the IDIVAL and the ACE Foundation to carry out one of the further studies conducted so far to study the role of the tau protein gene in Alzheimer's disease.

The results of this work, he explained, indicate that in a sample of the Spanish population of 15,552 individuals, the haplotype or genetic variant H2 of the tau protein is protective of Alzheimer's disease. This variant, especially prevalent in Mediterranean countries, has been registered in 30% of the sample studied, becoming one of the highest percentages described and revealing itself as a particularly relevant factor in our environment, he said.

The head of the Cognitive Deterioration Unit of Valdecilla, commented that the DEGESCO consortium has tens of thousands of samples to study the genetics of diseases, which has allowed Spain to be positioned “in a prominent place within the large global consortia of Alzheimer's genetics”.

In this sense, he has assured that “this study is an example of the importance of studying different populations to better understand the variability of the genetic architecture associated with Alzheimer's disease in different human groups.”

The study, whose results have been published in the magazine 'Frontiers in Aging Neuroscience', is part of the 'Gr @ ce-Degesco' project, led by Dr. Agustín Ruiz of the ACE Foundation, and has been funded by the strategic action in health of the Carlos III Health Institute, la Caixa and Grifols.

Ref. The MAPT H1 Haplotype Is a Risk Factor for Alzheimer's Disease in APOE ε4 Non-carriers.Sánchez-Juan P, Moreno S, de Rojas I, Hernández I, Valero S, Alegret M, Montrreal L, García González P, Lage C, López-García S, Rodrííguez-Rodríguez E, Orellana A, Tárraga L, Boada M, Ruiz A. Front Aging Neurosci. 2019 Dec 4;11:327. doi: 10.3389/fnagi.2019.00327. eCollection 2019. PMID: 31866851 Free PMC Article