THE Family Does not feel Pain thanks to Rare Gene Mutation - Health

THE Family Does not feel Pain thanks to Rare Gene Mutation - Health

The Marsilis family are pretty real superheroes. Six members of this Italian family have a rare genetic mutation that causes them to have extremely low sensitivity to pain, which means they had broken bones and other painful injuries without realizing it. In addition, they can eat spicy chili peppers with ease.

More recently, scientists have studied this fascinating family to understand the responsible genes and even to develop new methods of pain relief. Their findings were published in Brain magazine this week.

"Members of this family can burn themselves or experience pain-free fractures without feeling pain, but they have normal intraepidermal nerve fiber density, which means their nerves are all there, they just do not work the way they should," said Lead author Dr. James Cox from University College London in a statement.

"We are working to get a better understanding of why they do not feel much pain to see if this could help us find new pain relief treatments."

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The members of the family who are endowed with this gene variant include a mother (78 years old), her two daughters (52 and 50 years old) and her children (two boys and one girl aged 24, 21 and 16 years ). In homage to the family - the only known people with this genetic mutation - the researchers called the disease Marsili syndrome

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Letizia Marsili, the 52-year-old family member with the disease, spoke with BBC News, explaining that they never considered the disease negative even though it has its downsides. First, they often damage the roof of their mouths with hot drinks because they are unaware that they burn themselves. Similarly, her 24-year-old son has extremely sensitive ankles due to numerous microfractures he has learned in soccer.

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For the scientists, the family has proved to be an invaluable tool to understand the genetics of pain and possibly to encourage future treatment for chronic pain patients. They received DNA from each member of the family and mapped the protein-coding genes in the genome to finally identify the new point mutation in the ZFHX2 gene. They then bred mice that had the same mutation in the ZFHX2 gene. As you can imagine, these mice have also achieved considerable pain tolerance.

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"By identifying this mutation and clarifying 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. "With more research to understand exactly how mutation affects pain sensitivity, and to see what other genes might be involved, we could identify new targets for drug development."

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