Medicine miracle A family of six never sees pain

Family does not feel pain because of rare gene mutation

Members of an Italian family do not feel pain, even if they burn themselves or break their bones. Researchers have now found that a rare gene mutation is responsible for the absence of pain. They hope that the new findings lead to the development of new painkillers.

Italian family feels no 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 researchers, who recently published their findings in the journal Brain, hope the findings can help develop new treatments for chronic pain.

Members of an Italian family do not feel pain, even if they burn themselves or break their bones. Researchers have now found the reason for the lack of pain. (Image: Andrey Popov / fotolia.com)

Painlessness by gene mutation

Again and again people are reported who feel little or no pain. For example, about a young girl from England, which was also dubbed as "Terminator" girl because of his pain resistance of tabloid media.

A few years ago, scientists from the University of Jena found in a study that a particular gene change in another little girl leads to a life without pain.

The researchers had discovered then that the mutant gene called "SCN11A" in the child meant that it remains completely painless in injuries.

And medics at MedUni Vienna also reported two years ago on patients whose analgesia is caused by a gene mutation.

The Marsilis, a family of six from Italy, feels no pain. Now scientists have figured out why that is.

Nerves do not work as they should

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

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

"We worked to understand more fully why they are not in great pain to see if this can help us find new painkillers," said Cox.

Mutation in a gene called ZFHX2

To find the cause of their 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 journal "New Scientist".

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

When the researchers completely abrogated this gene in mice, it appeared that the animals had a weaker perception of pain when pressure was applied to their tails. In addition, they reacted to heat hypersensitive.

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

When they then implanted the mice with the same mutated version of the gene that the Italian family has, it became clear that the animals were much less sensitive to painful heat.

The mutation appears to have this effect because 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 resistance, we have opened a whole new path to drug discovery 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 findings and subsequent research will help identify better treatments for millions of people around the world who are chronically in pain and who are not relieved of existing medications."

It may also be possible to develop a treatment that can reverse the painlessness of the Italian family.

However, researcher John Wood, who was involved in the study, said the family told him they did not want that. "I asked them if they wanted to have a normal sense of pain and they said no." (Ad)