Medicine miracle: A family of six never notices pain

Family experiences no pain due to rare gene mutation

Members of an Italian family feel no pain, even if they burn themselves or break their bones. Researchers have now found that a rare gene mutation is responsible for the freedom from pain. They hope that the new findings will lead to the development of new pain relievers.

Italian family does not feel pain

A research team led by University College London (UCL) has identified a rare gene mutation that causes a family of six from Italy to feel no pain. The scientists, who recently published their results in the journal "Brain", hope that the findings can help to develop new treatments for chronic pain.

Painlessness through gene mutation

Time and again there are reports of people who feel little or no pain. For example, about a young girl from England who, due to her pain resistance, was also dubbed a "terminator" girl by the tabloids.

A few years ago, scientists from the University of Jena discovered in a study that a certain genetic modification in another little girl leads to a life without pain.

At that time, the researchers discovered that the mutated gene called "SCN11A" in the child left the child completely free of pain when injured.

And two years ago, doctors at MedUni Vienna also reported on patients whose painlessness is caused by a gene mutation.

The Marsilis, a family of six from Italy, also feels no pain. Now scientists have found out why.

Nerves don't work as they should

"The members of this family can burn themselves or break their bones without feeling pain," said study author Dr. James Cox of the Wolfson Institute for Biomedical Research at University College London in a communication.

"But they have normal intraepidermal nerve fiber density, which means that their nerves are all there, they just don't work the way they should," said the expert.

"We were working to understand more precisely why they are not in great pain to see if this can help us find new pain relievers," said Cox.

Mutation in a gene called ZFHX2

To find the cause of her lack of sensitivity to pain, Cox and his colleagues conducted a series of tests on the family members (a 78-year-old woman, her two middle-aged daughters and their three children), reports the specialist magazine "New Scientist".

The team found that all six individuals had a normal number of nerves in their skin, but they all had a mutation in a gene called ZFHX2.

When the researchers completely switched off this gene in mice, it was found that the animals had less pain perception when pressure was applied to their tails. They were also hypersensitive to heat.

According to the scientists, these results suggest that the gene plays a role in whether stimuli are painful or not.

When they then implanted the same mutant version of the gene that the Italian family has in the mice, it was found that the animals were much less sensitive to painful heat.

The mutation appears to have this effect, as the gene normally controls the activity of 16 other genes, some of which are involved in the perception of pain.

Better treatment options for patients with chronic pain

"By identifying this mutation and explaining that it contributes to family pain-insensitivity, we have opened up a whole new path to drug research for pain relief," said co-author Professor Anna Maria Aloisi of the University of Siena.

And Dr. Abdella Habib of Qatar University said: "We hope that our results and subsequent research projects will help find better treatment options for millions of people around the world who have chronic pain and are not getting relief from existing medication."

A treatment could possibly be developed to reverse the Italian family's sensitivity to pain.

But researcher John Wood, who was part of the study, said the family told him they didn't want to. "I asked them if they wanted a normal feeling of pain and they said no." (Ad)

Author and source information

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