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In a groundbreaking revelation, recent studies have identified clonal hematopoiesis as a novel risk factor for cardiovascular disease, a discovery that could reshape approaches to heart disease prevention and treatment. The research, published in Nature Medicine and the European Heart Journal, highlights how acquired mutations in blood stem cells contribute to atherosclerosis, a condition characterized by the buildup of arterial plaque that can lead to severe cardiovascular events.
Traditionally, heart disease risk has been associated with factors such as high blood pressure, high cholesterol, diabetes, obesity, smoking, and physical inactivity. However, the new findings introduce clonal hematopoiesis—a condition resulting from acquired mutations in blood stem cells—as an additional risk factor that must now be considered. This condition has been previously linked to an increased risk of cardiovascular events, but its role in atherosclerosis was not well understood.
The pivotal study, led by Dr. José Javier Fuster at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), analyzed data from the PESA-CNIC-Santander study, which tracks cardiovascular health in over 4,000 middle-aged participants. Using advanced DNA sequencing technologies, the researchers detected somatic mutations associated with clonal hematopoiesis and assessed their impact on atherosclerosis progression. The findings demonstrate that participants with these mutations were more likely to develop atherosclerosis, while the extent of atherosclerosis did not affect the expansion of mutated blood cells.
“This research clarifies that clonal hematopoiesis contributes to the development of atherosclerosis rather than being a consequence of it,” explained Miriam Díez-Díez, a co-first author on the study. The results suggest that targeting these mutations could become a new strategy for preventing cardiovascular disease.
In a complementary study published in the European Heart Journal, the CNIC team, in collaboration with researchers from the Broad Institute, explored the potential of colchicine, an ancient anti-inflammatory drug, to mitigate the adverse effects of TET2 gene mutations linked to clonal hematopoiesis. The study found that colchicine treatment slowed atherosclerosis progression in animal models with TET2 mutations and reduced myocardial infarction risk in human patients with similar mutations.
Colchicine, a drug used for centuries in traditional medicine and now approved for treating inflammatory conditions like gout, offers a cost-effective and globally accessible option for managing cardiovascular risk in individuals with clonal hematopoiesis. Dr. María Ángeles Zuriaga, the study’s lead author, emphasized the practical implications of this treatment: “Colchicine is an affordable medicine with widespread availability, and its potential for preventing cardiovascular disease in TET2 mutation carriers is promising.”
Dr. Fuster underscores the importance of personalized medicine in addressing clonal hematopoiesis. “Each mutated gene may require specific interventions, and while colchicine shows promise, further clinical trials are needed to confirm its effectiveness in preventing cardiovascular disease in affected individuals.”
These studies, presented today at the European Society of Cardiology meeting in London, mark a significant advance in understanding and managing cardiovascular risk. As research continues, the integration of clonal hematopoiesis into cardiovascular risk assessments and prevention strategies could lead to more targeted and effective treatments for heart disease.
References:
- “Unidirectional association of clonal hematopoiesis with atherosclerosis development” by Miriam Díez-Díez et al., Nature Medicine, 30 August 2024. DOI: 10.1038/s41591-024-03213-1
- “Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis” by María A Zuriaga et al., European Heart Journal, 30 August 2024. DOI: 10.1093/eurheartj/ehae546
