IRCM researchers uncover the critical role in pain processing of a gene associated with a rare disease
Researchers at the IRCM led by Artur Kania, PhD, Adjunct Professor in the Department of Medicine (Division of Experimental Medicine), the Department of Biology, and the Department of Anatomy and Cell Biology at McGill University, uncovered the critical role in pain processing of a gene associated with a rare disease. Their breakthrough, published in The Journal of Neuroscience, paves the way for a better understanding of chronic pain conditions.
Dr. Kania’s team studies the way neural circuits transform harmful stimuli (such as cold, heat, and pinch) into the perception of pain. More precisely, they examined the gene Lmx1b and its involvement in pain processing. Mutations in this gene also cause a rare human disease called the Nail-patella syndrome (NPS), which is characterized by limb and kidney malformations. More importantly, NPS patients show reduced pain responses.
“By studying mouse models, we first showed this gene is essential for the survival of neurons and the development of the spinal cord,” explains Dr. Kania, Director of the Neural Circuit Development research unit at the IRCM. “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.”