Italian Marsilis family has a mysterious genetic mutation that effectively negates the sensation of pain, enabling them with the rare anomaly to persevere effortlessly through extreme physical discomfort.
The gene variant – identified in an Italian family who feels almost no pain even when seriously injured – could help scientists find new treatments for chronic pain that mimic the family's unusual gift.
"We have spent several years trying to identify the gene that is the cause of this," molecular biologist James Cox from University College London told.
"This particular disorder may only be in one family."
That family, the Marsilis, go about their daily lives with something much like a real-life superpower, thanks to a rare genetic point mutation spanning at least three generations.
The mutation means they feel little or no pain from things like burns or broken bones to the point where they don't always actually realize when they've been hurt. Sometimes they feel pain in the initial break but it goes away very quickly.
For example, [52-year-old] Letizia broke her shoulder while skiing, but then kept skiing for the rest of the day and drove home. She didn't get it checked out until the next day.
The variant shared by the family was isolated in the Marsilis' DNA from blood samples and is located in a gene called ZFHX2.
While it's not entirely clear how the mutation works, the team hypothesizes that the variant disrupts how ZFHX2 regulates other genes that have been linked to pain signaling.
That disruption gives the Marsilis what's known as congenital insensitivity to pain, but their phenotype is so remarkable the researchers have named a whole sub-type of the condition, 'Marsili syndrome', after the family.