In our weird and wonderful world you sometimes come across a story that makes you do a double take. This was one of those for me!
As someone who suffers from chronic pain (small fiber peripheral neuropathy) there are many days when I have wished desperately for something to change so that I could stop experiencing the agony I was in. I’m sure that I am not alone in this! So can you imagine a life where you never experienced pain at all? Envisage that your whole family were the same, in fact so unusual is this that the syndrome is named after your family. This is life for a family from Italy: folks meet the Marsili family, and then perhaps we will all get a new appreciation of why pain is actually really important to all of us.
Named “Marsili syndrome,” it is quite an unpleasant gene mutation to have.
Letizia Marsili realised she was different to other children at quite a young age. She once fractured her shoulder while skiing, but didn’t notice until a day later when her fingers started tingling! Another time, she broke her elbow playing tennis without even realizing it. One of her sons has extremely calcified ankles from football injuries, and the other once rode his bike for nine miles after breaking his elbow. Her sister is prone to mouth injuries because she doesn’t realise it when her food is too hot, and her mother also has a reputation for absentmindedly burning herself. Letizia told the BBC: “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. However, in truth, we do feel pain, the perception of pain, but this only lasts for a few seconds.”
After several years of study, researchers have been able to identify a genetic reason for their condition, and it might shine a light on pain management strategies in the future.
It’s all about the genes!
When researchers tested the Marsili family, they found a consistent mutation in the gene known as ZFHX2. They then bred a population of mice with the same mutation and found that those rodents had the same insensitivity to heat that so many of the Marsilis experience.
The discovery of this mechanism could be of incredible importance for medical science professionals who specialise in understanding pain and the application of pain management technologies.
Image credit Letizia Marsili.