The condition is called clonal hematopoiesis of indeterminate potential, or CHIP, and it becomes common after age 70. Researchers across Harvard Medical School, the Broad Institute and Massachusetts General Hospital asked whether it was truly silent.
Across four studies totaling more than 8,000 people, carriers of CHIP had nearly double the risk of coronary heart disease, and carriers had four times the risk of an early heart attack. Mice given Tet2-deficient bone marrow, mimicking the mutation, grew larger arterial plaques than normal mice.
The mutations most often struck genes such as DNMT3A and TET2, and carriers also showed heavier calcium buildup in their arteries, a direct sign of atherosclerosis. In the mouse experiments, macrophages lacking Tet2 showed higher activity of inflammatory genes linked to plaque. The work turned a blood finding doctors had treated as inert into a measurable cardiovascular risk factor.
Read the original study
A silent blood mutation, a doubled risk.
Source
- Jaiswal, S., Natarajan, P., Silver, A. J., Gibson, C. J., Bick, A. G., Shvartz, E., McConkey, M., Gupta, N., Gabriel, S., Ardissino, D., Baber, U., Mehran, R., Fuster, V., Danesh, J., Frossard, P., Saleheen, D., Melander, O., Sukhova, G. K., Neuberg, D., . . . Ebert, B. L. (2017). Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease. New England Journal of Medicine, 377(2), 111–121. https://doi.org/10.1056/NEJMoa1701719