There is a rare and curious disease that is characterized by a single symptom: the absence of pain. And what is a dream for millions of patients becomes a nightmare for those who suffer from it. No longer to suffer, a calamity for those who hurt themselves without knowing, have a fever without knowing it, and often die quite young.
This family disease, which was talked about a few days ago about an Italian family, is called "congenital insensitivity to pain". It is a total loss of the sense of pain all over the body, while all other senses are preserved.
We knew the case of these two French brothers and sisters who suffered from this disease and had fun hitting themselves until the break, which burned every day in the kitchen. They knew perfectly well the sensation of hot and cold, but were unable to feel the burning of a liquid too hot. And who both died of an undetected intestinal infection ... or at least too late. Because it is not the disease that kills, but the absence of the sign of appeal, that is the pain, and its consequences, especially traumatic.
Two hypotheses have existed for quite a long time, quite logical, without any being verified. The first concerns the transfer of the pain signal to the brain. This goes through "channels" that in nerve cells transform suffering into electrical signals of intensity proportional to the intensity of the pain and that recognizes the brain.
The other explanation, which is also very logical, but probably less accurate, is that the brain secretes a super-molecule against pain, which is much more effective than morphine. It is known that he is capable of doing it when one pushes the body to the end; marathoners are well acquainted with this substance, which we call endorphins and which make it possible to go beyond the usual limits without suffering. A similar, more potent substance would be secreted permanently by these patients.
The genetic trail for treatment
Until now, all attempts at chemical treatments have failed, especially those who have tried to pursue the endorphin tracks by giving some sort of antidote capable of reprimanding the pain. The only solution is the prevention of trauma. Permanent, exhausting, strict and hardly compatible with a normal life.
The Italian family who has been talking a lot about her for a few weeks is a big help to science. Who says genetic disease says genetic mutation. Italian and English researchers seem to have discovered this mutation they called ZFHX2.
Inhibiting this gene was to give the feeling of pain back to those people who are suffering in another way. Handling it might be a way of relieving everyone else.