Somatic mutations in both blood cells and vascular endothelium from patients with severe coronary artery diseases
Zhang, H.; Tannous, H.; Mazzeo, C.; Zheng, H.; Zhan, H.
Show abstract
Individuals with clonal hematopoiesis of indeterminate potential (CHIP) is associated with a 2-4 fold increase in cardiovascular diseases (CVDs). While most studies focus on mutant blood cells, we propose that a better insight into the CHIP-CVD connection can be obtained by examining the genetic mutations in both the vascular endothelium and peripheral blood samples from the same patient. In this study, we examined somatic mutations by whole exome sequencing in paired blood and vascular samples from 4 patients with severe coronary artery disease who underwent coronary artery bypass graft surgery. We found that blood and endothelium can acquire the same mutations during aging and CHIP-associated mutations are not uncommon in vascular endothelium in patients with severe CVDs. Since vascular endothelial cells have critical roles in the regulation of cardiovascular function, mutant vascular endothelium offers an opportunity for further investigations to improve our diagnosis and management of individuals with CHIP.
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