Syndrome Marsili: a family that feels no pain
52-year-old Letizia Marsili in early childhood understood that it is not like the other. She almost felt no pain and could not see that burned or sustained a fracture. Five members of her family also do not feel pain in situations where the normal person would take a pain reliever.
«We are quite ordinary, normal life, maybe even better than the other, because we very rarely feel bad and almost don’t feel pain,» says Letizia Marsili. «The truth is, we actually feel the pain, but it lasts only a few seconds,» she adds.
Scientists believe that some nerve cells from family members of Marsili work differently than everyone else. Scientists hope to identify the gene mutation that created such a high threshold for pain. Researchers believe that an understanding of the nature of this phenomenon will help in the treatment of people suffering from chronic pain syndromes.
«We are on track to open a new method of treatment of pain syndrome,» — says Professor at the University of Siena Anna Maria Aloisi.
Fractures and burns without pain
Mother Laetitia, her two sons, sister and niece all live with the same syndrome, which was named for this family: pain syndrome of Marsili.
As noted by Anna Maria Aloisi, pain is an important signal that the body something is wrong. And since family members are Marsilli feel the pain only a few seconds, often until the start of the inflammatory process, they just don’t notice the trauma. In the end, they go to the doctor rather late.
According to Leticia, her 24-year-old son Ludovico, who like football, often gets injured.
«He rarely stops, even when he gets knocked down. However, he had problems with ankle and he often gets microtrauma. He took x-rays of the joints, showing that he has a lot of cracks in the ankle,» says Letitia.
Her youngest son, 21-year-old Bernardo, received a fracture of the elbow falling off a bike. But he didn’t even notice this: after falling he got up and drove another 14 kilometers. The injury was discovered when the bone has already started to coalesce.
Leticia told how she suffered a broken shoulder after falling while skiing. But instead of having to go to the doctor, she decided that all in order and rode all day. To the doctor she came in the next morning due to the fact that they felt in the fingers uncomfortable tingling.
She also didn’t notice anything when playing tennis, broke a bone in the elbow joint.
But the most unpleasant incident with her words, there was a case when she didn’t notice the problem with her dental implant. Mother Letitia, 78-year-old Maria Domenica, also suffered multiple bone fractures, didn’t notice them and went to the doctor in time, causing the bones healed with displacement. She also often gets burns.
Sister Letitia almost always burns his mouth with hot drinks, and her daughter Virginia once frostbitten hand. She kept her hand on the ice for 20 minutes and feel no pain.
Helps or hinders?
Despite all these cases, the child does not complain of no pain and does not believe that it interferes with normal life. James Cox from University College London says that the family Marsili «all the nerves on the spot», but they are not functioning as they should.
«We are trying to understand why they don’t feel pain. Realizing this, we can discuss whether this discovery to find a new painkiller,» says James Cox.
The researchers ‘ work, in which they attempted to identify the clinical manifestations of a genetic disease of the family, was published in the scientific journal Brain.
Syndrome Marsili means that patients with this gene mutation are less sensitive to hot or cold, and broken bones such a patient are not accompanied by pain syndrome.
Making genetic maps family members Marsili, scientists have found a mutation in the gene for ZFHX2. Then they conducted two experiments with mice. In the first case, scientists bred mice without the gene. In this case, the threshold of pain sensitivity in mice significantly changed. In the second experiment, they raised mice with a similar gene mutation ZFHX2, leading to insensitivity of mice to high temperatures.
The scientists intend to continue research to understand what other genes may be involved in patients with the syndrome Marsili. Family Marsili considered only in the world with such a gene mutation that does not allow to feel pain.