The family who didn’t feel the pain
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Published the 17.12.2017 at 20: 01
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It is a blessing to be a double-edged sword. The insensitivity, congenital pain is a rare syndrome linked to genetic mutations that it begins to identify and understand. The family Marsili, recently honoured by the british media, is reached. Thanks to her, researchers at University College London and the university of Siena come to identify the gene at the origin of their strange power.
As noted by the BBC, the mother, Letizia Marsili, do not feel the burn and can fracture a bone without even noticing it. It has thus broken the shoulder-blade to the ski without becoming discouraged, never making it to the emergency room the next morning, because she felt the tingling in the fingers. And as the gene in question is dominant, the other five members of this Italian family with analgesia congenital : his mother, his two sons, his sister and his niece.
This is not of any rest. About his son Ludovico, 24 years old and a footballer lover, she tells the story. “It seldom remains on the ground, even after having been mown. (…) But the radio showed that he had a large number of micro-fractures in both ankles. “In fact, the insensitivity to pain is a testament, in hollow, of the importance of pain as a signal of self-conservation. When this signal is low or non-existent, it is very easy to be put in danger by a simple mistake.
To a treatment of chronic pain
But the misfortune of one making the happiness (potential) of the other, the sequencing of the genome of the members of the family allowed to identify the gene in question, ZFHX2. Researchers have shown, in mice, that it coded for a transcription factor involved in the function of receptors for pain located in the spinal cord. In the family Marsili, a point mutation causes the gene to express the protein crucial.
Result : in spite of a nerve network quite normal, the signal of pain does not result in a subjective sensation. “In truth, we feel pain, perception of pain, but this lasts only a few seconds,” says Letizia Marsili, in the columns of the BBC.
The identification of the responsible gene could help treat chronic pain, a scourge that affects on average one in ten. “If we find a way to imitate the syndrome Marsili, over-expressing the transcription factor mutated, we could lead to a gene therapy,” concludes Dr. Abdella Habib, of the university of Qatar, first author of the study.