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Italian Family Can't Feel Pain Because Of Rare Gene Mutation

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Ever wished you could stop feeling pain? A family from Italy has a condition that prevents them from feeling physical pain. By understanding their condition, experts could one day find new treatments for chronic pain.

Meet The Marsili Family

Six members of the Marsili family from Italy have a rare genetic condition called congenital analgesia or congenital insensitivity to pain. What it means is that they can practically experience injuries such as bone fractures without feeling any physical pain.

People with this condition are able to feel and tell the difference between sensations such as hot and cold and sharp and dull. However, they are not able to tell, for example, if a hot drink is already burning their tongue. What's interesting is that all their nerves are present in their system, but they do not work the way they should.

In the case of the Marsili family, they also manifest low sensitivity to chili pepper, normal to high sensitivity to odors, and occasional hyperthermia. As such, their specific condition has been tagged as Marsili syndrome.

Genetic Mutation

Researchers conducted complete exome sequences to map out the protein-coding genes in the genome of Marsili family members with the condition. There they identified the gene ZFHX2 as the point of mutation and proceeded to conduct further studies to understand the mutation and to see how it will affect mice's pain sensations.

In the first experiment, researchers bred mice without ZFHX2 and found that their pain sensations were altered. In the second experiment, the mice they bred had ZFHX2 with the gene mutation and found that they had become insensitive to high temperatures. Further, they also found that the gene is connected to other genes, which are related to pain signaling.

New Treatments For Chronic Pain

Although perhaps more studies are needed to fully understand the implications of the mutation to pain insensitivity, the family's participation in the study allows for a new way of looking at treating chronic pain, a condition which affects millions of Americans and even more worldwide. Apart from developing new drugs to replace the current painkillers in the market, researchers surmise that gene therapies may also be plausible and hopefully more effective pain management treatments.

"We hope that our findings and the subsequent research projects will help find better treatments for the millions of people worldwide who experience chronic pain and don't get relief from existing drugs," said the study's first author, Dr. Abdella Habib of Qatar University and University College London.

The study is published in the journal Brain.

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