A team of scientists detected a rare gene mutation that renders an Italian family mostly immune to pain. Study findings were released in the journal Brain.
According to James Cox, a molecular biologist at the University College London, scientists have been trying for years to figure out why this family, the Marsili’s have had this strange quirk for the last three generations.
The researchers hope to use the information to develop more advanced painkillers. They believe this might also help lead to other medical achievements.
The Rare Gene Mutation that Affects a Whole Family
After taking blood samples, scientists have now isolated the cause. Namely, they linked it to a gene known as ZFHX2. Researchers are still trying to figure out exactly how this works, however. The current theory is that it obstructs other genes which generally cause people to feel pain.
“However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds,” say the Marsili’s.
The members of this family are not the only people in the world with what is called congenital insensitivity to pain. However, their own variant is so odd that many consider it a sub-type. Becuase of this, it has been dubbed the “Marsili syndrome.”
As it is, being immune to pain can have its downsides. Members of the family often get serious injuries without realizing it. The fact that they go on without treating their wounds can cause those problems to worsen as well.
For example, Ludovico Marsili, the 24-year-old son who likes to play football, recently had an X-ray. This revealed numerous micro-fractures in his ankles that he did not know about, according to his mother, Letizia.
Once Letizia herself fell down while skiing, got up, and kept going for the rest of the day. It was only the next day that she went to the doctor and realized that she had broken her shoulder.
She says that they do sometimes feel pain, but only for a few seconds. Other than that she says that they have fairly normal lives, though theirs are “perhaps better than the rest of the population.” The family members state that they are uninterested in having their condition “cured.”
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