London: A young Pakistani street performer and members of three related families have enabled scientists to make a genetic breakthrough that could lead to more effective painkillers.
During his short life, the unnamed boy never felt pain. He was a local celebrity in northern Pakistan where he astonished crowds by plunging knives through his arms and walking on burning coals.
He died on his 14th birthday after jumping from a roof. By studying his case, and other individuals from families in the same clan, researchers have discovered that they all had a rare inherited genetic mutation that stopped them feeling pain.
"All six affected individuals had never felt any pain, at any time, in any part of their body," said Dr Geoffrey Woods, of the University of Cambridge Institute for Medical Research (CIMR) in England.
The mutation Woods and his collaborators in Britain and Pakistan have discovered is on a gene called SCN9A. It stops a sodium channel, which produces nerve impulses that convey pain signals to the brain, from functioning.
So the otherwise healthy individuals do not experience pain. Woods, who reported the discovery in the journal Nature, said drugs that block the function of the channel "have the potential to produce new and potentially safer analgesia."
The drug company Pfizer Inc. already has a new pain relief product in preclinical development based on the genetic discovery.
Although it hurts, pain is a useful sensation because it warns people of danger and injury or if something is too hot or too cold. It also has a survival benefit because when people begin to feel pain they change their behaviour to avoid it.
No pain, no gain
Even as babies, none of the individuals with the genetic mutation felt pain. Their appearance, hearing and vision were normal but all had injuries to their lips or tongue caused by biting themselves when they were babies or toddlers.
Two had painless scalds as young children. Dr John Wood, of University College London and a co-author of the study, said the discovery is potentially as important as the identification of morphine and opiate receptors two decades ago which improved understanding about how drugs work and led to the discovery of chemicals in the body that control pain.
"The discovery is really striking. No other single gene deletion has such a dramatic effect on pain perception without other deleterious consequences," Wood said in an interview. "So this is a major new insight and I think it has the potential for a completely new class of painkilling drugs."
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