A Family of Real-Life Superheroesadmin
Six members of an Italian family were the subjects of a study recently published in the neurology journal Brain. The purpose of the study? To determine why they all had such a low sensitivity to pain. The University College London-led study found that a genetic mutation is to blame.
“The members of this family can burn themselves or experience pain-free bone fractures without feeling any pain. But they have a normal intraepidermal nerve fibre density, which means their nerves are all there, they’re just not working how they should be,” study lead author Dr. James Cox said in a statement.
The ZFHX2 gene was determined to be the culprit as the mother, her two daughters, and their three children all displayed this same gene variant, IFLScience.com reported.
To confirm this, the scientists bred mice that had the same mutation in the ZFHX2 gene, and noted that these mice also gained a considerable tolerance to pain.
“By identifying this mutation and clarifying that it contributes to the family’s pain insensitivity, we have opened up a whole new route to drug discovery for pain releif,” said study co-author Professor Anna Maria Aloisi. “With more research to understand exactly how the mutation impacts pain sensitivity, and to see what other genes might be involved, we could identify novel targets for drug development.”
Read more about Marsili syndrome on BBC.com.