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Pain-Related Gene

The discover of rare gene mutation that results in a complete inability to sense pain could lead to the development of novel painkillers, according to new findings (CoxJ et al. Nature.2006;444:894-898)

Researchers in the United Kingdom, Pakistan, the United Arab Emirates, and Jordan studied 3 related families originating in northern Pakistan after learning of one family member, a boy who performed street theater by walking on burning coals and piercing his arms with knives. Although they were unable to examine the boy, who died on his 14th birthday after jumping off a roof, they turned up 6 related members from the boy's clan, aged 6 to 14 years, who also had never felt any pain. The affected individuals had no apparent deficits in other sensory functions.

A DNA analysis revealed that the 6 youngsters shared a mutation in a gene called SCN9A, which is strongly expressed in pain-responsive neurons and encodes a sodium-channel protein that is crucial to transmitting the pain sensation detected by these neurons. "These findings should stimulate the search for novel analgesics that selectively target this sodium channel sub-unit,"the researchers noted.