A Canadian study has reportedly revealed the key role in pain processing of a gene linked to a rare disease; the finding may help pave the way for an improved understanding of chronic pain conditions.

The study’s results appear in The Journal of Neuroscience

A news release issued by the Institut de recherches cliniques de Montreal (IRCM) notes that Artur Kania, PhD, led researchers at the institute during the study.

Kania’s team investigates the way in which neural circuits transform harmful stimuli (such as cold, heat, and pinch) into the perception of pain. Specifically, the release says the researchers examined the gene Lmx1b and its involvement in pain processing. Additionally, the release notes that mutations in this gene also cause a rare human disease known as Nail-patella syndrome (NPS), characterized by limb and kidney malformations. Also, NPS patients exhibit reduced pain responses.

Kania, who is director of the Neural Circuit Development research unit at the IRCM, explains in the release that by studying mouse models “we first showed this gene is essential for the survival of neurons and the development of the spinal cord. We then uncovered that removing the gene only in the spinal cord allows the mice to survive. However, it also results in reduced sensitivity to harmful mechanical (crushing, pinching) and thermal (heat, cold) stimulation.”

Nora Szabo, PhD, adds that the researchers also discovered the missing gene leads to missing neurons, which in turn, impacts the proper development and circuitry of the entire nervous system.

“In fact, we observed a disruption in the connection between the spinal cord and specific brain centers, which prevents information from being transmitted correctly,” Szabo says.

Ronan V. da Silva, PhD student in the same laboratory and co-author of the article, also adds that the researchers’ work “demonstrate[s] the critical role of Lmx1b for mechanical and thermal pain processing.”

Kania emphasizes the results’ significance, as he states, “little is currently known about the pain pathways in the nervous system, this breakthrough will help advance our understanding of pain sensation. Our work also provides invaluable knowledge for the study of chronic pain and other pain conditions.”

[Source: Institut de recherches cliniques de Montreal (IRCM)]