An Italian family who are unable to feel pain and even ski on broken legs are giving scientists hope for a revolutionary pain-killing drug.
Six relatives across three generations, including a 78-year-old woman, her two daughters, aged 52 and 50, and their two sons and one girl, aged 24, 21 and 16, respectively, have endured broken limbs and skin injuries without even noticing.
Study author Dr James Cox from the University College London, said: ‘For example, [one girl] 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.’
Caused by a genetic mutation, the family’s inability to feel pain lets certain relatives tolerate dangerously hot temperatures, eat copious amounts of chillies and find intense deep-tissue massages pleasurable.
The unique condition has been called Marsili syndrome after the family’s surname, but is a form of congenital hypoalgesia.
By identifying the mutated gene that prevents the Marsili’s from feeling discomfort, the researchers hope their findings will lead to the development of pain-killing drugs for people unable to get relief from existing treatments.
A member of an Italian family who are unable to feel pain even skied on a broken leg (stock)
WHAT IS CONGENITAL HYPOALGESIA?
Congenital hypoalgesia is reduced sensitivity to pain since birth.
It occurs when the receptors that recognise painful stimuli and send messages to the brain to cause discomfort are disrupted or missing.
Hypoalgesia can occur due to certain disorders.
People with the condition often bite off their tongue, lips or tips of their fingers, as well as suffering multiple bone fractures.
‘They feel pain in the initial break but it goes away very quickly’
Certain family members experience slight pain, which fades within 50 to 60 seconds.
Dr Cox said: ‘Sometimes they feel pain in the initial break but it goes away very quickly. For example, 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.’
Some of the relatives are unable to sweat while others barely do so.
Yet, despite their tolerance to pain, they still report occasional headaches and lower-back pain, with the mothers also reporting discomfort during labour.
All of the relatives also have high sensitivity to odours, which is sometimes accompanied by vomiting or fainting.
Their intelligence and movement are unaffected.
Yet, they sometimes report lower-back pain and headaches, as well as discomfort in labour
Mutated gene could lead to new painkillers
The researchers performed a series of tests on the family members to determine their ability to feel pressure, detect temperature, notice heat from chillies and generally experience pain.
Results reveal all the relatives had a a mutation in a gene called ZFHX2. The number of nerves in their skin is normal.
When the researchers removed this gene in mice, they found the animals were worse at sensing painful pressure applied to their tails.
After the rodents were given the family’s mutated gene, they became much less sensitive to heat.
ZFHX2 controls the activity of 16 other genes, some of which are involved in pain.
Working out how the gene reduces pain may help in the development of drugs that have the same effect, according to the researchers.
Such treatments could benefit those with chronic pain who do not get sufficient relief from existing therapies.
The findings were published in the journal Brain.