Researchers Say Genes from Ancient Mummies May Explain Why Heart Disease Is So Common Today

The same genes that predispose humans to atherosclerosis, the disease that causes heart attacks and strokes, may have advantages earlier in life, new findings published in the American Heart Association’s scientific journal Circulation suggest.

Over the past 16 years, the HORUS Mummy Research Team has used CT scans to search for atherosclerosis in mummified remains around the world. The team studied hundreds of mummies from seven different cultures spanning four millennia, including ancient Egyptians, ancient Peruvians, and hunter-gatherers from the Aleutian Islands and Greenland.

“Even though the average age at death was only about 40, we found evidence of atherosclerosis in every group—roughly 38% of the mummies,” said Randall C. Thompson, MD, co-leader of the HORUS research team and cardiologist at Saint Luke’s Mid America Heart Institute. “That suggested the roots of atherosclerosis go much deeper than modern lifestyles.”

Without modern-day risk factors such as processed foods, tobacco, or sedentary lifestyles, the team began to suspect a genetic origin.

Advances in ancient DNA sequencing provided new clues. In 2023, researchers at the Institute for Mummy Studies in Bolzano, Italy, found an ancient hunter-gatherer carried more than 60% of known genes associated with atherosclerosis.

“That’s when we began to think these genes must confer some benefit,” said Gregory S. Thomas, MD, MPH, co-leader of the HORUS research team and cardiologist at MemorialCare Long Beach Medical Center. “If they were purely harmful, evolution would have eliminated them.”

The researchers turned to the evolutionary concept of antagonistic pleiotropy—that one gene can serve two purposes, beneficial in life but detrimental later.

“If a gene boosts fertility or survival through child-rearing years but promotes heart disease decades later, it would still be selected,” noted Thompson.

To test this, the team collaborated with Benjamin Trumble, who studies the indigenous Tsimane of Bolivia through tht eTsimane Health and Life History Project.

“We examined a gene called Apo-ε4, which is linked to both heart attack and Alzheimer’s disease,” said Trumble. “Among 795 Tsimane women, we found that those with one copy of Apo-ε4 had about half a child more on average than those without it, and women with two copies had roughly 1.7 more children. That’s a clear fertility advantage.”

Researchers noted these findings suggest genes predisposing humans to atherosclerosis were kept in the gene pool because they helped humans reproduce and raise children successfully.

“Today, we live decades longer and have accumulated new risk factors like diet, inactivity, and smoking that amplify the effects of those same genes,” Thompson said. “What was once adaptive may now be a liability.”

“We can’t change our evolutionary history, but we can control today’s risk factors,” Thomas emphasized. “Understanding that our biology evolved for a different world helps us see why managing blood pressure, cholesterol, and lifestyle is more important than ever.”

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Possible Evolutionary Origins of Atherosclerosis: Suggestive Evidence from Ancient to Modern Populations