A single mutant gene is responsible for 30% of all mysterious pain

We may earn a commission from links on this page.

In the United States alone, 20 million people suffer from peripheral neuropathy, a condition that involves nerve degeneration and sometimes extreme pain, often without any explanation. Now we've found the culprit for this mysterious pain...and it's all one gene's fault.

Specifically, it's the gene SCNA9, which is involved in the sensory nerve fibers and produces a protein sodium channel known as Nav1.7. Yale researchers, working with colleagues in the Netherlands, found that this particular gene is responsible for the horrifically named "Man on Fire Syndrome", a rare disorder marked by pain so severe that it's like...well, I think you can probably guess what it's like.

What's more, when the researchers examined 28 patients with peripheral neuropathy that could not otherwise be explained, 30% of the patients showed mutations in the SCNA9. These mutations created hyperactive nerve cells, which in turn ultimately caused the nerve fibers to degenerate, resulting in the severe - and until now unexplained - pain.


The researchers are hopeful that this will help lead to treatments for people dealing with these pains. But until then, we can say this for certain - SCNA9 is the jerkiest gene in the planet, and that's my considered scientific opinion.

Via Annals of Neurology.