New Perspectives on Alzheimer's Risk Genes 

Ace Alzheimer Center collaborates with the University of Washington in an innovative Whole Genome Association Study (GWAS) and proteomics study that seeks to better understand the genetic factors contributing to Alzheimer's disease

This research has identified 4 new genetic variants related to the levels of the TREM2 protein in cerebrospinal fluid. 

What is the TREM2 protein and what is its role in the development of Alzheimer's disease? 

TREM2 is a protein present in cerebrospinal fluid and plays a key role in the activation of microglia, that is, in the immune response derived from inflammation of the nervous system. Additionally, microglia play a fundamental role in Alzheimer's disease in terms of eliminating ß-amyloid plaques, which are the protein aggregates in the brain that cause neuronal death and the development of dementia

Therefore, a deregulation of microglia function caused by genetic variants of TREM2 could increase the risk of developing Alzheimer's. 

Four New Risk Variants for Alzheimer's Disease 

"Two variants were discovered in the MS4A gene, one in TGFBR2 and another in RBMS3 that would affect TREM2 levels and, therefore, increase the risk of developing Alzheimer's. Furthermore, the study identifies a new variant in the APOE gene that is also associated with TREM2 levels. This new APOE gene variant adds to the already known APOE4 variant, well established as a risk factor for the development of Alzheimer's," explains Dr. Agustín Ruiz, research director at Ace Alzheimer Center Barcelona

"With this, we can say that this study is the first to identify new genetic variants associated with the levels of the TREM2 protein, except for MS4A, whose function in relation to this protein was already known.

A New Step in Understanding Alzheimer's Disease 

This study provides new perspectives on the risk genes of Alzheimer's. "Knowing these genetic variants, which act as modulators in the biology of the TREM2 protein, we open new doors to develop treatments for Alzheimer's disease that allow pharmacologically altering TREM2 levels and thus contain the amyloid cascade," according to Dr. Ruiz

In addition, "these findings can help detect cognitive decline when its symptoms have not yet become evident, as we contribute even more risk genes that can act as biomarkers for the development of dementia," concludes Dr. Agustín Ruiz. The Commitment of Ace Alzheimer Center Barcelona to Research 

The study included 3350 people of European ancestry, making it the largest genomic association study recorded to date. 

Ace Alzheimer Center Barcelona contributed data from 435 people who meet the highest standards of analysis and quality, representing the second largest collaboration in sample submission. 

Through this collaboration, Ace participates in a study that advances in the early detection of Alzheimer's by providing insights into the associated risk genes and deepening the understanding of a disease that affects millions of people around the world. 

Full article here

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