Cause of Rare Pain Disorder Identified

Researchers studying a rare inherited pain disorder have identified a mutation that enhances the function of a specific ion channel as the cause. The results of the study were published in the June edition of the journal Neuron.

Multiple neurological disorders have been linked with mutations in ion channels, according to past research. Disruptions in ion channels have been linked with migraine, epilepsy, and multiple pathological pain disorders.

"Transient receptor potential (TRP) channels are ion channels that have been implicated in all aspects of sensation. However, despite mouse studies suggesting that a number of TRPs play an important role in pain pathways, no human heritable disorders of pain sensation have as yet been linked to mutations in TRP channels," said study author, Dr. John N. Wood from the Wolfson Institute for Biomedical Research at University College London, in a news release.

The research team identified a mutation in a specific TRP gene (TRPA1) in individuals from a family in Columbia, South America, with an inherited pain syndrome called familial episodic pain syndrome (FEPS). Symptoms of the syndrome include: debilitating upper body pain that is usually triggered by fasting, physical stress, or a fatigue.

"Our findings provide the first evidence that variation in the TRPA1 gene can alter pain perception in humans," said Dr. Wood, in a news release. "It will be of great interest to establish whether TRPA1 channel variants or misregulation contributes to the risk and severity of chronic pain in other patient populations."