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A Genetic Mutation Was Named in Honor of This Family

A Genetic Mutation Was Named in Honor of This Family

This is an ordinary Italian family. There’s a mother and 2 daughters, each with their own families. However, there is one thing that makes them different from everyone else: a rare and unique syndrome. 6 members of the Marsili family feel almost no pain — 78-year-old Maria Domenico (the head of the family), her 2 daughters, Letizia and Maria, and their children, Virginia, Ludovico, and Bernardo.

According to Letizia Marsili, she started noticing that she had a low pain threshold in childhood, and her colleagues even called her “superwoman.” There were several cases in their family of someone breaking a bone and not even realizing it. This even happened to her elderly mother.

Letizia herself once sprained her ankle during a winter vacation, and she walked without any problems with a swollen leg for the remaining 2 weeks of the trip. Her son Bernardo once fell off a bicycle, and he broke his arm but did not even notice it. The trauma was discovered when the bone had already started to grow back together. Letizia’s sister, Maria, has burned herself with hot drinks several times and not even noticed, and Virginia somehow got her hand frostbitten and found out about it much later.

“We do actually feel pain, but it only lasts a few seconds,” the woman says.

Letizia, her niece, Virginia, and sister, Maria

Scientists became interested in this phenomenon. In the course of their research, they have found a mutation in the ZFHX2 gene. Dr. James Cox from University College London says that the nervous system of the members of this family reacts in a way that is unlike all other people’s. “If we find out the reason for that absence of pain, then perhaps this will help us create a new generation of pain medication,” says Cox.

The younger generation of the Marsili family also has this rare mutation.

In the meantime, scientists have named this new gene mutation that results in a person being less sensitive to cold and hot, as well as almost incapable of feeling pain. They called it the Marsili Syndrome, named after this unique family.

In everything else, the Marsili family does not really differ from any other family. “Now that we know about our syndrome, we are more careful and attentive to ourselves. Even if it were possible, I would not want to get rid of this feature. Eventually, one day, research will lead to a discovery that will push science forward and help humanity,” said Letizia.

Do you know other examples of such bizarre and unique mutations? We would love to hear about them!

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