Kids’ Sudden Cardiac Deaths Explained by Heritable Mutations in a Single Gene

Examining the tragedies of several families who each lost multiple children, two teams of researchers reveal a previously unappreciated role for a mitochondrial enzyme.

Written byKerry Grens
| 4 min read

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WIKIPEDIA, LOUISA HOWARDSeveral years ago, two families approached Jeanne Amiel, a genetics researcher at the French Institute of Health and Medical Research (INSERM) in Paris, searching for answers. One set of parents had lost four babies, each suddenly and unexpectedly, one after another—all of the children were between 14 months and 15 months old. The other parents had suffered the deaths of a 20-month-old and, later, a four-month-old. In each case, the babies’ hearts stopped, but no one knew why.

“They were fine,” said Amiel. All of the children seemed healthy. The parents whose fourth toddler died even took the child in for monthly check-ups with a cardiac specialist to be sure nothing would be overlooked. “And one day, in a few minutes or hours, [he] died,” Amiel recounted.

Two decades earlier, halfway around the world in New Zealand, another family experienced a similar tragedy. A 15-year-old boy took a sip of beer, collapsed, and died. Several years later, his then 20-year-old brother suffered the same consequence after drinking a small amount of alcohol.

As with the babies, both young men died because of cardiac arrest. But the parents were given no explanation why.

Now, Amiel’s team and another led by Peter George of the ...

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  • kerry grens

    Kerry served as The Scientist’s news director until 2021. Before joining The Scientist in 2013, she was a stringer for Reuters Health, the senior health and science reporter at WHYY in Philadelphia, and the health and science reporter at New Hampshire Public Radio. Kerry got her start in journalism as a AAAS Mass Media fellow at KUNC in Colorado. She has a master’s in biological sciences from Stanford University and a biology degree from Loyola University Chicago.

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