This Study Uncovered A Surprising Link Between Heart Health And Genetics

Researchers have just discovered a genetic component that factors into heart disease, and their findings may potentially revolutionize how medical professionals diagnose and treat heart conditions. Until now, doctors have actually been looking in the wrong place to detect heart disease; this new information may help them change course. It turns out that heart attacks might have less to do with diet, exercise, and blood pressure, and far more to do with genetics.

Dr. Sekar Kathiresan from the Broad Institute of Harvard and MIT and Dr. Benjamin Ebert from Brigham and Women's Hospital recently published their findings in the New England Journal of Medicine. Their research introduces a gene mutation linked to poor heart health, called the clonal hematopoiesis of indeterminate potential (CHIP).

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CHIP mutations aren't inherited—instead, they multiply over time among stem cells. When injected into rats, this mutation multiplied and caused atherosclerotic plaques in the blood vessels, which inflamed and hardened the arteries in the heart and triggered attacks.

“The mouse work suggests that the path to heart disease is something different from what we have been working on so far,” said Dr. Kathiresan.

“This is a totally different type of risk factor than hypertension or high blood cholesterol or smoking,” said Dr. Kathiresan. "Since it’s a totally different risk factor that works through a different mechanism, it may lead to new treatment opportunities very different from the ones we have for heart disease at present.”

Kathiresan and his team first found the gene several years ago. The conclusion from the initial study was a 10-fold higher risk of a blood cancer in a person who has developed the gene.

In this study, four population pools of 8,000 each agreed to have their genomes sequenced, some being young people.

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“We were fully expecting not to find anything here,” said Dr. Kathiresan, “but the odds of having an early heart attack are four-fold higher among younger people with this mutation.”

CHIP mutations are caused by external factors that are still under investigation. The amount of damage it can do to a person depends on the number of mutated cells circulating in the blood.

"The load of mutations increases over time. The higher the load, the more the risk of heart disease and blood cancer," said Dr. Kathiresan.

The good news is there's a way to detect it: A simple blood test is all that's needed to track the accumulating mutations. This will help doctors identify at-risk individuals and work on treatment plans sooner rather than later. A drug is also under development that will decrease the mutated cell population and eventually eliminate it altogether.

Source: Travis Air Force Base