"Families who do not feel pain" exist, what is the cause?

bycongerdesign

Letizia Marsili family in a special situation that the majority of families "are fracturing and burning before they notice because they do not feel pain." If you investigate Letizia 's gene mutation, is not it possible to use it for the treatment of diseases? So, researchers are approaching the mystery of the family.

novel human pain insensitivity disorder caused by a point mutation in ZFHX 2 | Brain | Oxford Academic
https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awx326/4725107

The family that does not feel pain - BBC News
http://www.bbc.com/news/health-42322225

Letizia Marsili and his two sons, such as his son, mother, older sister and nephew, are called "family members who do not feel pain". Although not feeling pain seems to be merit at first glance, pain is a "warning signal" issued by the body, so it is said that because of being unable to receive a signal, there are many injuries.

A woman in the photo is Letizia.


Actually, Marsili does not feel pain at all, but he seems to be able to perceive pain only for a few seconds. Therefore, Ludovico, a 24-year-old son, went back to the game immediately even in a dangerous contact play while playing soccer, and it is good that a small crack has entered a lot of ankle bones without knowing I will. Also, another son who is 21 years old did not realize that he broke down when he fell from the bike,CalcificationIt is said that it has happened. Letizia himself also continues skiing despite having broken his shoulder in the middle of skiing and has the experience that he went to the hospital for the first time after the finger became numbered the next day. Letizia and his / her family are not noticed even if there is a fracture, so they can not properly heal the wounds, often burned and the injured places are cured.

Mr. Letizia's mother and sister did not feel pain the same way, and the fish said he was okay even if he kept his hands in ice water for 20 minutes.

However, despite the fact that the above happens, Mr. Letizia does not regard that he does not feel pain as "negative things in life". "We are having ordinary days everyday, and on the contrary, they may be doing better lives than most people, because they feel almost no feeling or pain," Letizia Said.

Professor James Cox, researcher at University College London, and others conducted a survey on Letizia's family to explore the causative genes of "not feeling pain".BrainAccording to the paper published in Letizia et al., The epidermis of Letizia et al. Did not mean "there is no nerve fiber" but "it is a state that nerve fibers are standard but there is no normal function" Thing. "We will continue to research to understand more why they do not feel pain so much, and from research we may find new treatments to alleviate pain," Cox said.

In order to investigate which gene is caused by this symptom named Marsili 's syndrome, researchers were asked about each family members'Protein coding geneAs a result of mapping, we found that there is a mutation in the ZFHX2 gene. After that, when the ZFHX2 gene was removed by experiments using the mouse, it was found that the threshold value for pain in the mouse changes. In addition, mice with genetic mutations similar to Marsili syndrome became remarkably insensitive to high fever.

bystevepb

Professor Anna Maria Aloisi of the University of Siena, Italy, said, "If you understand the impact of mutations on susceptibility to pain and what genes are involved, We will be able to find new targets, "he told BBC.