Inability to experience pain

NaV1.7 mutations

NaV1.7 mutations

Voltage-gated sodium channels produce action potentials that carry pain sensation into the central nervous system. Here is an article about a family with members who exhibit a congenital inability to experience pain:

A stop codon mutation in SCN9A causes lack of pain sensation

The genetic defect found in that family was in the SCN9A gene which codes for a type of voltage-gated sodium channel (Nav1.7) that is important for pain sensation.

In a more recent article, two sodium channel mutations were reported that cause reduced expression of Nav1.7 at the cell surface and disrupt the ion transport function: Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Minor variations in Nav1.7 structure can cause subtle alterations in sodium channel function and pain sensation (1). Pharmacological agents such as ranolazine are being investigated for possible use as inhibitors of pain sensation (2).

Related: a blog post about NaV1.8, another sodium channel subtype that seems to be involved in pain sensation.


About johnwschmidt

Exploring medical physiology.
This entry was posted in congenital insensitivity to pain, Diseases, electrophysiology, NaV1.7, pharmacology, ranolazine and tagged , . Bookmark the permalink.

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