Gene Mutation Could Explain Humans’ High Risk of Heart Attack

Mutating a gene called CMAH in mice so it’s nonfunctional, as in humans, upped the animals’ chances of developing heart disease, a study finds.

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Between 2 million and 3 million years ago, humans lost the function of a gene called CMAH, one that remains active in other primates today. The mutation likely spread through our human ancestors because it has some benefit. For example, it’s thought to make humans better long-distance runners than our evolutionary cousins. But a new study in mice points to a significant downside: A far higher risk of heart attack.

Heart disease is the most common cause of death in the US, and atherosclerosis—the buildup of plaque on the inside of arteries—is frequently a component of that disease. Yet atherosclerosis isn’t a problem for other apes, even captive animals subject to some of the same risk factors as humans, such as high blood pressure and physical inactivity, Nissi Varki and Ajit Varki of the University of California, San Diego (UCSD), have found in previous work. “That’s ...

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Meet the Author

  • Shawna Williams

    Shawna was an editor at The Scientist from 2017 through 2022. She holds a bachelor's degree in biochemistry from Colorado College and a graduate certificate and science communication from the University of California, Santa Cruz.
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