A Scottish woman who realized later in life that she was unable to feel pain has helped researchers home in on gene alterations linked to that condition, Gizmodo reports.
After undergoing hand surgery and not requiring post-operative painkillers, her doctors put her in touch with a University College London team that then sequenced her and members of her family, it adds. As the UCL team led by James Cox reports in the British Journal of Anesthesia, it found that the woman and her son, who reported a degree of pain insensitivity, share a heterozygous microdeletion located just downstream of the FAAH gene, which maps to the FAAH-OUT pseudogene. The unaffected family members did not have this microdeletion, nor did they have a more common FAAH SNP the woman and her son also had.
The researchers further report that the affected woman had increased circulation of anandamide, oleoylethanolamine, and palmitoylethanolamide in her blood.
This suggests, Gizmodo adds, that scientist could try to target FAAH-OUT to alter pain perception. "It is really exciting to work with rare patients with pain insensitivity and to hopefully identify new analgesic drug targets as a consequence of that work," Cox tells Gizmodo.