ePoster · Neuroscience
Functional investigation of human TRPA1 channel polymorphisms
Cosmin Ciotu, Gold-Binder Markus, Stefan Heber, Michael Fischer · FENS Forum 2024
Mutations within ion channels can cause functional alterations, including either loss or gain of function. Specific activation of the TRPA1 channel has been shown to be sufficient to trigger pain in humans [Heber et al, 2019]. The dbSNP database records five missense single nucleotide polymorphisms (SNPs) within the TRPA1 gene - R3C, R58T, E179K, K186N, and H1018R, with the second most frequent variant exceeding 10% in the general population. This study aimed to compare these genetic variants concerning their impact on established modes of activation in contrast to the most common form of TRPA