Gain-of-function mutations in the transient receptor potential channels TRPV1 and TRPA1: how painful?

Title:

Gain-of-function mutations in the transient receptor potential channels TRPV1 and TRPA1: how painful?

Creator:

Štěpána Boukalová, Filip Touška, Marsakova, L., Hynkova, A., Lucie Surá, Chvojka, S., Ivan Dittert, and Viktorie Vlachová

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:65cb6923-daa4-494d-9bdc-8b1d793ccb18
uuid:65cb6923-daa4-494d-9bdc-8b1d793ccb18

Subject:

Fyziologie člověka a srovnávací fyziologie, mutace (biologie), funkce, mutation (biology), functions, TRPV1, TRPA1, gain-of-function mutation, spontaneous activity, gating, nociception, 14, and 612

Type:

article, články, model:article, and TEXT

Format:

print

Description:

Gain-of-function (GOF) mutations in ion channels are rare events, which lead to increased agonist sensitivity or altered gating properties, and may render the channel constitutively active. Uncovering and following characterization of such mutants contribute substantially to the understanding of the molecular basis of ion channel functioning. Here we give an overview of some GOF mutants in polymodal ion channels specifically involved in transduction of painful stimuli - TRPV1 and TRPA1, which are scrutinized by scientists due to their important role in development of some pathological pain states. Remarkably, a substitution of single amino acid in the S4-S5 region of TRPA1 (N855S) has been recently associat ed with familial episodic pain syndrome. This mutation increases chemical sensitivity of TRPA1, but leaves the voltage sensitivit y unchanged. On the other hand, mutations in the analogous regi on of TRPV1 (R557K and G563S) severely affect all aspects of channel activation and lead to spontaneous activity. Comparison of the effects induced by mutations in homologous positions in different TRP receptors (or more generally in other distan tly related ion channels) may elucidate the gating mechanisms conserved during evolution., S. Boukalova ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2014 Volume:63 | Number:Suppl 1

Harvested from:

CDK

Metadata only:

false