Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased Na_V1.5 current and mechanosensitivity.

ABSTRACT: The SCN5A-encoded voltage-gated mechanosensitive Na⁺ channel Na_V1.5 is expressed in human gastrointestinal smooth muscle cells and interstitial cells of Cajal. Na_V1.5 contributes to smooth muscle electrical slow waves and mechanical sensitivity. In predominantly Caucasian irritable bowel syndrome (IBS) patient cohorts, 2-3% of patients have SCN5A missense mutations that alter Na_V1.5 function and may contribute to IBS pathophysiology. In this study we examined a racially and ethnically diverse cohort of IBS patients for SCN5A missense mutations, compared them with IBS-negative controls, and determined the resulting Na_V1.5 voltage-dependent and mechanosensitive properties. All SCN5A exons were sequenced from somatic DNA of 252 Rome III I

SUBMITTER: Strege PR 

PROVIDER: S-EPMC5966747 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature