Does every Nav1.7 variant lead to pain?

Mutations in the voltage-gated sodium channel Nav1.7 are associated with human pain. There are genetic mutations - also called variants - that lead to chronic pain in everyone who has them in their genome. We have tested two Nav1.7 variants (Nav1.7/N1245S and Nav1.7/E1139K) found in the literature in pain patients for functional changes in the laboratory. The variants are very rare, but can occasionally be found in people who are not known to have a pain disorder.

Our experiments do not indicate a clear pathogenic effect of the two Nav 1.7 variants and suggest that they are not solely responsible for the patients' pain symptoms. It is possible that a combination of several variants - including those in other genes - is necessary for the development of pain.

Further information on this study can be found in the publication published in 2021:

⇒ Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect