Blood cell mutations are early indications for atherosclerosis

By Alexander Pan

Atherosclerosis, or plaque build-up, is a characteristic of cardiovascular diseases that usually develops in the elderly. It is the leading cause of death in the elderly for those who suffer from cardiovascular diseases. In the past, researchers were unable to determine age-dependent risk factors that indicate cardiovascular diseases. They knew that aging is often associated with increased somatic mutations in blood cells, resulting in their expansion. In Boston University School of Medicine, researchers determined a direct relationship between specific white blood cell mutations and the development of atherosclerosis later in life. The researchers investigated the gene TET2, which is frequently mutated in the elderly, and its impact on plaque development. TET2 genes were transplanted into a model bone marrow and it showed increased plaque formation when compared to the control bone marrow. It is reasoned that the TET2 genes increase macrophage inflammation in the artery walls, resulting in more plaque buildup. Due to this understanding of the correlation between somatic DNA mutations in white blood cells and the increased formation of plaque, researchers can develop treatments that target these white blood cell mutations to prevent atherosclerosis. Since such mutations begin to appear in middle-aged people, investigation of blood samples through genetic analysis can be used as a technique to test risk factors for atherosclerosis. 


Boston University Medical Center. "A role for mutated blood cells in heart disease?." ScienceDaily. ScienceDaily, 19 January 2017. <>.

José J. Fuster, Susan MacLauchlan, María A. Zuriaga, Maya N. Polackal, Allison C. Ostriker, Raja Chakraborty, Chia-Ling Wu, Soichi Sano, Sujatha Muralidharan, Cristina Rius, Jacqueline Vuong, Sophia Jacob, Varsha Muralidhar, Avril A. B. Robertson, Matthew A. Cooper, Vicente Andrés, Karen K. Hirschi, Kathleen A. Martin, Kenneth Walsh. Clonal hematopoiesis associated with Tet2 deficiency accelerates atherosclerosis development in mice. Science, 2017; eaag1381 DOI: 10.1126/science.aag1381