Clonal hematopoiesis, aging and Alzheimer’s disease - Nature Medicine

Bouzid et al. analyzed data from two large, independent patient cohorts, the Framingham Heart Study and the Cardiovascular Health Study, to show that CH is associated with a decreased incidence of AD. In addition, they performed genomic analysis of single-nucleus suspensions from brain autopsy specimens to identify CH mutations in microglial cells and estimate the percentage of cells carrying CH mutations.

This study provides new insights into the association of CH with a common disease seen in the aging context — albeit with a potential protective role, in contrast to its role in other disease contexts. Furthermore, the authors’ discovery of mutant microglia cells — which represent the infiltration of CH-derived cells into the human central nervous system — has not been described before, to our knowledge.

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