Ace study expands knowledge on the genetic risk in Alzheimer's disease

A study by Ace Alzheimer Center Barcelona published in Acta Neuropathologica, which belongs to the Springer Nature group, analyzes the genetic effects in the cerebrospinal fluid of Beta-amyloid and Tau proteins, two of the main proteins involved in the development of Alzheimer's disease.

Moreover, the study also reveals two new risk genes for the development of the disease. With these, Ace has participated in the discovery of 67 of the 89 known genes for Alzheimer's disease.

This research aims to understand the genetic risk factors that contribute to the origin and development of Alzheimer's disease. The study is based on the fact that the levels of Beta-amyloid and Tau proteins in the cerebrospinal fluid vary depending on the person with Alzheimer's disease. Therefore, these proteins act as biomarkers of dementia, and measuring their levels reflects the central characteristics of the origin of the disease.

In fact, this method makes it possible to provide a more reliable diagnosis than a clinical one, as the latter can lead to misclassification or failure to take into account symptoms that have not yet been manifested.

The research has combined data from 31 cohorts, covering more than 13,000 people, the majority (82%) of whom are part of the European Alzheimer's & Dementia Biobank (EADB). Experts say that further genetic analysis of cerebrospinal fluid biomarkers will show which biological mechanisms of some genes have an effect on the origin of the disease.

The study is part of GR@ACE, the genomic research project promoted by Ace more than 5 years ago. From a clinical perspective, the impact of genomic technologies on the diagnosis and predictability of developing Alzheimer's disease is key. Experts point out that the genetic characterization of Alzheimer's patients will generate a change in the diagnostic model in the future.

The new findings open the door to a better understanding of the genetics of Alzheimer's disease and could lead to the development of treatments that target the progression of the disease to slow deterioration.

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