People have a rare mutation that should not have caused them to be born. But how did they manage to survive

(ORDO NEWS) — Scientists have found a strange mutation in a woman and her two children. Mice with her died in the womb, but people managed to survive. How is this possible?

Genetics can decide whether a person will live or die soon. In this case, apparently, she changed her mind at the last moment.

Scientists accidentally discovered this mutation in a family living on the outskirts of American Pittsburgh. They tried to introduce the resulting combination of genes into mice, but the embryos froze at the same stage, and the pregnancy ended in a miscarriage.

However, Nicole Burns and her two children are doing well – they live and do not suspect anything. Researchers at this time scratch their heads and try to understand how this is possible.

“Basically, it’s a lethal mutation,” says Cecilia Lo, chair of developmental biology at the University of Pittsburgh and lead author of the case study. “If you have it, you are almost dead.”

The family that survived

So how did Burns and her relatives survive? Despite everything, Lo thought, they had inherited not one but two super-rare mutations, with the second protecting them from the lethal effects of the first.

It seemed stunningly unbelievable – but that’s exactly what the scientists showed in a paper published in the journal Cell Reports Medicine.

Almost by accident, scientists discovered 8 mutations in genes that could be responsible for protection against a lethal change in the genome of these people.

Scientists tried everything and finally brought out genetically modified mice, which, in addition to the “deadly” mutation, had one more of those eight.

Some developed the same heart disease as Burns and her children, but they still survived. In other words, whatever side effects this mutation caused, thanks to it, Nicole and her two children were able to be born.


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