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In late June of 2015, news surfaced that scientists discovered another gene that coded for and affected the development of pain receptors, termed PRDM12. This information, a product of a University of Cambridge study, examined 11 different families who carried pain insensitivity in their respective pedigrees. Scientists at Cambridge selected these families based on their lack of diagnosis regarding symptoms. At the study’s beginning, the cause of insensitivity to pain was unclear, with known genetic mutations and other medical conditions having been ruled out.

Using autozygosity mapping, researchers found a section of chromosome 9 that looked like a prospective target area. Further testing was conducted on one family group, and the gene PRDM12 revealed a missense mutation. The Cambridge team examined and tested other families, finding that, though the type of mutation would occasionally vary, the site of the change was consistently PRDM12.

These findings were further tested in another study that examined the use of the PRDM12 gene in Drosophila, where the sensitivity to sudden heat was examined in flies with this mutated gene. Inducing the human PRDM12 gene into the flies caused problems with the nociceptors and dampened the organism’s ability to sense pain and discomfort. This study also concluded that the PRDM12 gene is conserved throughout evolutionary history, as the Drosophila has a similar gene but no central nervous system. Additional tests on Xenopus laevis and mice confirmed these results in organisms with more advanced nervous systems.

Since its identification, PRDM12 has been examined in things other than congenital insensitivity to pain, such as mid-face toddler excoriation syndrome (MiTES). Studies were conducted on three different toddlers displaying the same facial scarring and scratching tendencies, and the dermatologists involved ruled out traditional conditions such as eczema, or trauma from a single incident. This led the physicians to recommend that, in light of the PRDM12 discovery and its proposed inclusion in other dermatological abnormalities, the possibility of a PRDM12 mutation should be considered when typical diagnostic answers fail to provide results. Though rare, this insensitivity to pain can result in toddlers causing self-inflicted facial injuries.

In addition, construction and manufacturing of drugs for individuals with a mutated PRDM12 gene is being considered as the technology for gene-specific medication advances. Further investigation into the PRDM12 gene may yield advances in the fields of pain management for long-term disease patients as well as a better understanding of the way in which such unusual phenotypes present themselves, and how this is affected by inheritance patterns.