A rare, genetic mutation can keep you from feeling pain. Scientists have found that this mutation, though, can have some serious consequences.
The new findings come after researchers discovered two unrelated children with a very rare and unusual disease; they had not been able to feel any pain since birth.
"The affected children usually come to our attention when their baby teeth start to erupt because they start to bit their own tongue, lips and fingers and, in some cases, even bite bits of them off," said Michaela Auer-Grumbach, one of the researchers, in a news release. "They are also susceptible to bone fractures, which can go unnoticed for a long time because they cannot feel pain."
Because these individuals cannot feel pain, over the course of their lives they can sustain injuries, burns and bone fractures which are often discovered too late and don't heal well. Without proper medical care, these complications can even prove fatal.
In this latest study, the researchers examined all sections of the genetic material in patients that had this particular condition. In both cases, the scientists found that there were mutations in the gene PRDM12.
"Identification of mutations in the same gene in two people from different families but with a very similar clinical picture was a strong indication that we had discovered the gene responsible," said Jan Senderek, one of the researchers.
The findings may help affected individuals since researchers can provide appropriate genetic diagnoses and counseling for the individuals and their families. Even though no treatment is currently available, scientists can reduce the risk of serious injury and complications by means of supportive measures.
"Further investigations will show what significance the findings regarding PRDM12 have for pain research and the development of new pain medication," said Auer-Grumbach.
The findings are published in the journal Nature Genetics.
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