Autism-associated mutations in K_V7 channels induce gating pore current.

ABSTRACT: Autism spectrum disorder (ASD) adversely impacts >1% of children in the United States, causing social interaction deficits, repetitive behaviors, and communication disorders. Genetic analysis of ASD has advanced dramatically through genome sequencing, which has identified >500 genes with mutations in ASD. Mutations that alter arginine gating charges in the voltage sensor of the voltage-gated potassium (K_V) channel K_V7 (KCNQ) are among those frequently associated with ASD. We hypothesized that these gating charge mutations would induce gating pore current (also termed ω-current) by causing an ionic leak through the mutant voltage sensor. Unexpectedly, we found that wild-type K_V7 conducts outward gating pore current through its native voltage sensor at positi

SUBMITTER: Gamal El-Din TM 

PROVIDER: S-EPMC8609342 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature