An unusual family gives the name of a rare genetic mutation

in #family6 years ago

At first glance, this family is not different from the rest. Mother and two daughters, each with her own family. But there is something that makes them different: a rare and unique syndrome. The six members of the Marseilles family in Italy have little or no pain - 78-year-old Maria Domenico (the head of the family), her two daughters, Letizia and Maria and their children Virginia, Ludovic and Bernardo.

As a child, Letizia Marsily begins to notice that she has a low threshold of pain, and later becomes known as the "woman miracle" among her colleagues. There have been several cases where someone in the family breaks a bone without realizing it at all.

Letizia herself once sprawled her ankle during her winter vacation and continued without any trouble walking with her swollen leg for the remaining 2 weeks of the journey. Her son Bernardo once fell off a bicycle and broke his hand without notice. They found the trauma when the bone had already begun to heal. Maria's sister Lectius has been burned with hot drinks several times without notice, and Virginia somehow left her hand freezing in an unseen way that she knew much later.

"We actually experience pain, but it only takes a few seconds," says Letitia.

Scientists, investigating the unique phenomenon in the Marsili family, found a mutation in the ZFHX2 gene. Dr. James Cox from London University College explains that the nervous system of members of this family reacts in a way that does not resemble everyone else. "If we understand the cause of the absence of pain, it can help us create a new generation of painkillers," says Coke.

Meanwhile, scientists call it the new gene mutation Marsili syndrome. It makes people less susceptible to cold and hot, and also hardly able to experience physical pain.

In all other respects, the Marsili family is not different from the rest. "Now that we know about our syndrome, we are more cautious and attentive to ourselves, and even if it is possible, I would not w

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