Scientists discover cause of rare inherited condition that turns off pain sensors
About one in a million people are thought to be born without a sense of pain. Although it may seem wonderful to be just like one of your superheroes, it is actually an extremely dangerous condition.
Imagine not being able to feel hot or cold or when something severely bumps against you. You could unknowingly be burnt by hot objects or end up badly bruised. Or imagine you fell but had no idea whether you have fractured or broken any bones because you couldn’t feel the pain.
This rare condition is known as ‘congenital insensitivity to pain’ and can lead to sever self-inflicted injuries and even premature death.
Fortunately, scientists have now discovered the genetic cause of this inherited condition. It is due to the mutations of a specific gene – called PRDM12 – inherited from the parents.
A gene is a segment of DNA that is responsible for types of behavior, function and characteristics.
Thus when a child acquires the mutated PRDM12 gene from both parents – who are not affected by the condition – it is as if all the pain sensors of the body are being turned off from birth.
Congenital insensitivity to pain is so unusual that only about 20 cases have been reported. One of them is teenager Ashlyn Blocker, who lives with her parents in the US. Ashlyn cannot feel hot objects, or cuts and scratches on her skin, or insect bites. She can, and has, put her hand in boiling water without feeling any painful sensation, only to be badly burnt.
By figuring out why such patients lack the feeling of pain, scientists hope to better understand the nature of pain. With better knowledge, doctors will be able to help those suffering from insensitivity to pain, as well as help those in severe, long-term pain, manage it better.
As a Cambridge professor puts it,
“This could potentially benefit those who are at danger from lack of pain perception and help in the development of new treatments for pain relief”.
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