Causes Of Congenital Insensitivity To Pain

Gene Mutation

The primary cause for congenital insensitivity to pain is a mutation in the SCN9A gene, which controls one aspect of the sodium channel called NaV1.7. This channel is responsible for carrying sodium ions to different cells and helping those cells to create and transmit electrical signals. The NaV1.7 sodium channels are located in nociceptors (nerve cells), which are responsible for the transmission of pain signals to the brain. With the mutation of the SCN9A gene, the NV1.7 channel cannot be formed and therefore blocks the signal of pain from the injury from being transmitted to the brain. In other words, the mutation acts as a barricade, preventing crucial information from the injury site to be transmitted and processed by the brain as pain.

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