By working with individuals suffering from a severe disorder that causes sensory neurons to degenerate, researchers at the University of Montreal Hospital and CHU Sainte-Justine Hospital have discovered how a specific genetic mutation causes their patients’ condition, which in turn has revealed more information about the mechanisms in our bodies which enable us to sense pain. Lead author Jean-Baptiste Rivière, MD, published the team’s results in the American Journal of Human Genetics.

The currently untreatable disorder is called "hereditary sensory and autonomic neuropathy type II." It starts during early childhood and is characterized by a loss of perception of pain, touch and heat. Because affected individuals are unable to react to pain and protect themselves, they often develop ulcers that can become infected, leading to amputation of the affected body part. By working with their international colleagues, the research team was able to pinpoint how the disorder is related to the patients’ genetic code.

"After showing that the WNK1/HSN2 protein interacts with the KIF1A gene, we were able to go back to the cohort of patients and identify mutations of the KIF1A gene," Rivière said. While the genetic mutation affects very few people, the knowledge that the researchers have gained is applicable to everyone.

These findings provide clues about the components underlying the transmission of pain signal from sites of injury to the central nervous system.

Researchers may be able to use their new knowledge about the KIF1A gene to develop new pain relief drugs. "Our results not only open the door to a better understanding of this disorder," said Guy Rouleau, MD, a researcher on the study, "they also give us valuable information about the molecular mechanisms involved in pain perception, which is important for the development of new anti-pain drugs." A future drug might work by modulating interactions between different proteins associated with pain and KIF1A.

[Source: Université de Montreal via Medical News Today]