Blood Stem Cell Mutations and Their Potential Role in Reducing Alzheimer's Disease Risk

A groundbreaking study published in Cell Stem Cell has uncovered intriguing links between mutations in blood stem cells and a decreased risk of developing late-onset Alzheimer's disease. Researchers from Baylor College of Medicine found that specific genetic mutations, particularly in the TET2 gene, may offer protective effects against the progression of this neurodegenerative disorder.

The investigation involved analyzing human data from the UK Biobank and conducting experiments on a mouse model. The team discovered that individuals with blood stem cells carrying mutations in TET2 had a 47% lower chance of developing Alzheimer's. Meanwhile, similar mutations in the DNMT3A gene did not confer such protective benefits.

In mouse models, transplantation of TET2-mutant bone marrow cells resulted in reduced cognitive decline and fewer beta-amyloid plaques, hallmark features of Alzheimer's disease. These results suggest that TET2-mutant immune cells, which can migrate into the brain, might aid in clearing amyloid deposits more effectively.

Lead researcher Dr. Katherine King explained that immune cells derived from TET2-mutant clones showed an increased ability to target brain damage related to Alzheimer's. This discovery challenges the traditional view that clonal hematopoiesis— the expansion of mutated blood cells— always promotes disease progression. Instead, certain mutations like those in TET2 may have protective roles.

The research emphasizes the importance of a mutation-specific perspective when evaluating clonal hematopoiesis and its health implications. Understanding how these mutations influence inflammation and immune response could lead to new strategies for preventing or treating Alzheimer's and other neurodegenerative diseases.

This study not only advances our knowledge of the complex relationship between blood cell genetics and brain health but also opens up new prospects for therapeutic interventions targeting immune cell function in Alzheimer's disease.

For more details, see the original research in Cell Stem Cell.

Source: https://medicalxpress.com/news/2025-07-blood-stem-cell-mutations-linked.html