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A de novo gain-of-function mutation in SCN11A causes loss of pain perception
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A de novo gain-of-function mutation in SCN11A causes loss of pain perception
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Journal Article
A de novo gain-of-function mutation in SCN11A causes loss of pain perception
2013
Overview
Ingo Kurth and colleagues show that a specific
de novo
missense mutation in
SCN11A
results in an inability to experience pain. They further show that mutant channels display higher activity at resting voltages, causing sustained depolarization of pain receptors, impaired generation of action potentials and aberrant synaptic transmission.
The sensation of pain protects the body from serious injury
1
,
2
,
3
. Using exome sequencing, we identified a specific
de novo
missense mutation in
SCN11A
in individuals with the congenital inability to experience pain who suffer from recurrent tissue damage and severe mutilations. Heterozygous knock-in mice carrying the orthologous mutation showed reduced sensitivity to pain and self-inflicted tissue lesions, recapitulating aspects of the human phenotype.
SCN11A
encodes Na
v
1.9, a voltage-gated sodium ion channel that is primarily expressed in nociceptors, which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system
4
,
5
. Mutant Na
v
1.9 channels displayed excessive activity at resting voltages, causing sustained depolarization of nociceptors, impaired generation of action potentials and aberrant synaptic transmission. The gain-of-function mechanism that underlies this channelopathy suggests an alternative way to modulate pain perception.
Publisher
Nature Publishing Group US,Nature Publishing Group
