Gain-of-function of TRPM4 predisposes mice to psoriasiform dermatitis.

ABSTRACT: Transient receptor potential melastatin 4 (TRPM4) is a Ca²⁺-activated, monovalent cation channel that is expressed in a wide range of cells. We previously reported two gain-of-function (GoF) mutations of TRPM4 as the cause of progressive symmetric erythrokeratodermia (PSEK), which shares similar clinical and histopathological features with psoriasis. Using CRISPR/Cas9 technology, we generated TRPM4^I1029M mice that have the equivalent mutation to one of the two genetic mutations found in human PSEK (equivalent to human TRPM4^I1033M). Using this mutant mice, we examined the effects of TRPM4 GoF at the cellular and phenotypic levels to elucidate the pathological mechanisms underlying PSEK. In the absence of experimental stimulation, TRPM4^I1029M mice

SUBMITTER: Yamada D 

PROVIDER: S-EPMC9632438 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature