A recent study has uncovered a surprising new risk factor for heart disease called clonal hematopoiesis. This condition happens when mutations occur in blood stem cells, causing certain groups of blood cells to grow faster than usual.
While scientists have long known that high blood pressure, high cholesterol, diabetes, obesity, smoking, and a lack of exercise contribute to heart disease, clonal hematopoiesis is now being added to this list as a potential driver of conditions like atherosclerosis, which involves the buildup of fatty deposits in the arteries.
Clonal hematopoiesis develops when blood stem cells pick up genetic mutations over time. Usually, these mutations are harmless, but sometimes they give blood cells an advantage, allowing them to multiply faster than normal.
This leads to large groups of mutated blood cells circulating in the body. For years, researchers were unsure if these mutations were a cause of heart disease or simply a result of it.
Researchers at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) in Spain recently answered this question. Their study, published in Nature Medicine, showed that clonal hematopoiesis is indeed a cause of atherosclerosis.
This is a major finding because atherosclerosis is a key driver of heart attacks and strokes. By creating blockages and hardening the arteries, it makes it much harder for blood to flow properly, increasing the risk of serious heart problems.
To reach this conclusion, the researchers used data from the PESA-CNIC-Santander study, which is a long-term research project involving more than 4,000 middle-aged people. These participants appeared healthy and have been receiving regular health check-ups since 2010, including advanced imaging to detect early signs of atherosclerosis.
The researchers used highly sensitive DNA sequencing techniques to look for genetic mutations in blood samples. They then compared these findings to the development of atherosclerosis in the participants.
The results were clear: people who had mutations linked to clonal hematopoiesis at the beginning of the study were much more likely to develop atherosclerosis in the following years. Interestingly, the buildup of artery plaques did not seem to influence the growth of these mutated cells, suggesting that the mutations actually cause the disease, not the other way around.
This discovery changes how scientists understand the development of heart disease. Clonal hematopoiesis is now seen as an independent risk factor, separate from traditional causes like high cholesterol or smoking. This new understanding could lead to better ways to predict who is at risk for heart disease and how to treat it.
In a separate study published in the European Heart Journal, the CNIC team looked into possible treatments for people with clonal hematopoiesis. They focused specifically on mutations in the TET2 gene, which is one of the most common mutations linked to this condition.
The researchers partnered with scientists from the Broad Institute in Boston to test an old anti-inflammatory drug called colchicine. This drug has been used for centuries to treat conditions like gout and is known for its anti-inflammatory properties.
When researchers gave colchicine to animals with TET2 mutations, the development of atherosclerosis slowed down, bringing it to a rate similar to animals without these mutations. They also found that people with TET2 mutations who were taking colchicine for other health issues had a lower risk of heart attacks than those who did not take the drug.
Colchicine is widely available, cheap, and already approved by health agencies like the European Medicines Agency and the U.S. Food and Drug Administration (FDA) for preventing heart disease. This makes it an attractive option for treating people with clonal hematopoiesis and TET2 mutations.
However, the researchers pointed out that not all mutations in clonal hematopoiesis work the same way. This means that while colchicine might be helpful for some people, it might not work for others with different types of mutations. More research is needed to understand which treatments are best for each kind of genetic mutation.
The researchers hope that future clinical trials will confirm colchicine’s effectiveness for preventing heart disease in people with TET2 mutations. If successful, this could lead to more personalized treatments for heart disease, targeting the specific mutations that put people at risk.
This study marks a major step forward in understanding heart disease. It shows that mutations in blood cells can play a direct role in the development of atherosclerosis. Knowing this could change how doctors predict heart disease risk and offer treatments that are more tailored to individual genetic profiles.
While traditional risk factors like high cholesterol and smoking are still important, this new discovery highlights how genetic changes in blood cells can also drive heart disease. It opens the door to new treatments that focus on controlling these mutations before they cause serious damage.
With more research, doctors might soon be able to better protect people from heart disease by addressing the root causes hidden deep in their blood cells.
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