Italian Family May Hold Key to Treatments for Chronic Pain

By: | December 27th, 2017

Chronic pain treatments

Image by The Science Channel on Youtube

There may be hope for sufferers of chronic pain in the genes of an Italian family. Letizia Marsili, 52, and five of her family members can be burned and even break bones without noticing. When injured, they sometimes feel pain initially but this only lasts for a few seconds.

The family’s high threshold for pain is both a blessing and a curse

  • Once, Letizia broke her shoulder while skiing but didn’t notice it until the next day.
  • Letizia’s 21-year-old son, Bernardo, cycled over nine miles with a broken elbow after falling off his bike.
  • Her sister Maria Elena would often damage the roof of her mouth by burning it with hot drinks.
  • Letizia’s daughter Virginia once left her hand in ice for about 20 minutes without feeling anything.

Scientists finally have an answer as to why this Italian family doesn’t feel pain

A team of scientists in the United Kingdom discovered that an unusual genetic mutation is responsible for the family’s insensitivity to pain.

For the research, this unusual Italian family agreed to go through a series of rigorous tests that could be described as mild torture. They were poked at, asked to touch very hot surfaces, and had their hands dunked in ice water.

The genetic mutation responsible for this family’s condition could help in creating treatments for those who suffer from chronic pain

Marsili family members show signs of being affected by congenital analgesia or Marsili pain syndrome — a condition named after the family.

Researchers were able to successfully sequence part of the family’s genomes and found a new mutation in the ZFHX2 gene. They also discovered that mice bred to possess the ZFHX2 mutation were insensitive to high temperatures.

Nidhi Goyal

Nidhi is a gold medalist Post Graduate in Atmospheric and Oceanic Sciences. You can also find Nidhi on Google+.

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