Gene Mutation in Woman Who Feels No Pain Offers Hope for Future Treatment

A 71-year-old Scottish woman with insensitivity to pain owes her condition to two genetic mutations, which a new study published in the British Journal of Anaesthesia suggests could open new avenues to pain treatment. ABC News reports that Jo Cameron was diagnosed with this insensitivity in her mid-60s, and it has allowed her to live with virtually no pain or anxiety. One of the two mutations was a "microdeletion" in a pseudogene, or a DNA sequence that resembles a gene, but has been altered into an inactive form over the course of evolution. The other mutation was in the neighboring FAAH gene, which generates an enzyme that breaks down a chemical in the body central to pain sensation, mood, and memory. The so-called "FAAH-OUT" pseudogene was thought to be inactive, but the study implies it mediates the FAAH gene. "We found this woman has a particular genotype that reduces activity of a gene already considered to be a possible target for pain and anxiety treatments," says University College London Medical School James Cox. "Now that we are uncovering how this newly identified gene works, we hope to make further progress on new treatment targets."