Because of a strange genetic mutation, this family does not feel any pain

photo source: genecards


Burns, broken bones and other painful injuries, the Italian family Marsili feels nothing at all. They have an extremely rare DNA mutation that makes them virtually numb to pain. Scientists have now researched which gene it is in hopes of developing more effective painkillers. "The grandmother came out of a lift and broke her ankle," says Dr. James Cox, geneticist at University College London. "She went to the doctor, who made X-rays and said 'you've broken yourself before'."

The research team found that the six members of the family who have the condition do have the nerves with which they should feel pain. This indicates that the condition is genetic. "We spent years trying to identify the gene that causes this," Cox said. In the end it turned out to be a mutation in gene ZFHX2.

When the researchers removed that gene from mice, the animals became numb to pain just like the Marsili's. "This specific deviation may only occur with one family," Cox thinks. Yet understanding the condition has broader implications. "Because we now know which gene is responsible, we have found a whole new direction to find medicines that help to relieve pain,"said researcher Professor Anna Maria Aloisi of the University of Siena.

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