Rare Genetic Mutation Causes Family To Feel No Pain Whatsoever

Patricia Grannum - Author

Dec. 16 2017, Updated 8:31 p.m. ET

In a story that sounds like it was pulled from the X-Men franchise, there’s a family from Italy that has a rare genetic mutation where they feel no pain. According to the BBC, Letizia Marsili, 52, and five other members of her family don’t feel painful sensations when they break a bone or touch something that’s burning.

“From day to day we live a very normal life, perhaps better than the rest of the population, because we very rarely get unwell and we hardly feel any pain,” Letizia said in an interview with the BBC. “However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.”

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The Marsili family can go for some time with an injury without realizing that it’s there. While this seems like a good thing on the surface, it can lead to inflammation in their bones. They also experience very severe burns without noticing them.

Their condition is so noteworthy that they have a syndrome named after them, the Marsili syndrome. Symptoms of the condition include insensitivity to high temperatures, pain from broken bones, and the burning sensation you experience when you eat hot chili peppers.

The family’s condition isn’t a result of nerve damage. Scientists say that all of their nerves are intact. However, their nerves function differently when compared to the average human being. It all comes down to their genes. A study of the Marsili family that was published in the journal, Brain, found that Letizia and her family have a rare mutation in the ZFHX2 gene.

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In the lab, scientist bred rats without this gene and found that their pain thresholds became atypical for their species. Further tests showed that mice that were born with this specific genetic mutation became immune to extremely high temperatures.

The researchers who studied the family say that they hope further studies will give them more insight into drug development for pain relief. Chronic pain is a widespread problem in the United States. According to the National Institutes Of Health, 25 million Americans are living with this condition.

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According to Newsweek, researchers say that gene therapy could be a solution to this problem. Their goal is to find a way to reproduce the “Marsili phenotype,” along with their mutated gene, said John Wood, a neurobiology professor at the University College London Wolfson Institute for Biomedical Research.


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