The identification of a gene essential for our ability to sense pain is reported in a study published online this week in Nature Genetics. The protein produced by this gene may be a promising target for the development of new pain relief medication.
Congenital insensitivity to pain (CIP) is a rare condition in which a person is unable to sense physical pain. There are multiple different causes of CIP and understanding the molecular changes that lead to CIP may help in developing treatments for chronic pain.
C. Geoffrey Woods, Jan Senderek and colleagues identified CIP patients from 11 unrelated families who had mutations in both copies of the gene PRDM12. Individuals with these mutations were unable to feel pain from birth and could not distinguish between unpleasant heat or cold, but their other senses were mostly normal. Using normal mouse and human cells, the authors found that PDRM12 is specifically expressed in pain receptors, called nociceptors, and related cells. The authors also silenced the PRDM12 protein in frogs and observed that it plays an essential role in sensory neuron development.