The Family With A Genetic Mutation Named After Them

An Italian family that doesn’t feel pain now has their genetic mutation named after them, as they may be the only people in the world to experience it.

Marsili syndrome is a condition that causes low sensitivity to temperature extremes, capsaicin, and bone fractures. It’s named after the six members of the Marsili family – the grandmother, her two daughters, and three of their children – who feel almost no pain. “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, one of the daughters, told the BBC. “However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.”

While suffering no pain sounds like a dream come true, it can make the family’s lives difficult. They often suffer fractures that go undetected, which leads to them putting stress on their injuries and suffering inflammations. Grandmother Maria Domenica, 78, once went to the doctor for a broken ankle only to be informed that she had already broken it once before. Even so, Letizia says that she’s never seen the family’s painlessness “as a negative for our lives.”

In a recent study, published in the journal Brain, scientists delved into the family’s DNA to find out exactly why they don’t feel pain. They took blood samples from all of the family members to sequence their DNA and found that all the family members had a mutation in the ZFHX2 gene. Furthermore, they found that mice bred to have the mutant variety of the gene were more likely to be relaxed in uncomfortably-hot conditions.

The research team doesn’t yet know exactly what the mutated gene does, but they know that it doesn’t stop them from producing pain nerves outright. According to lead study author Dr. James Cox, the Marsili family members have all their pain-sensing nerves present; “they’re just not working how they should be.” And although the researchers don’t know why the gene impacts how people feel pain, they’re excited to see where the field will go with it.

Chronic pain is a massive, under-recognized problem. According to a recent study by the National Institute of Health, 11.2 percent of Americans surveyed had suffered from some kind of pain every day for the last three months. And, as the opioid addiction epidemic has doctors prescribing fewer high-strength painkillers over the long term, the struggle of people with chronic pain conditions has gotten even more difficult.

It doesn’t help that pain is such a complicated subject, with mechanisms we don’t totally understand yet and no real way to compare people’s pain levels. “The experience of pain is subjective,” Richard Nahin, one of the NIH study’s authors, said in a press release. “It’s not surprising then that the data show varied responses to pain even in those with similar levels of pain.”

But with the discovery of Marsili syndrome, scientists think they may be closer to understanding the fundamentals of pain, and how to treat it. As Dr. Abdella Habib, the study’s first author, told The Independent, “We hope that our findings and the subsequent research projects will help find better treatments for the millions of people worldwide who experience chronic pain and don’t get relief from existing drugs.”

Family With A Genetic Mutation Named After ThemTridsanu Thopet/Shutterstock

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