English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  The voltage-gated potassium channel Kv7.1 encoded by  KCNQ1  is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in  KCNQ1  causes long QT syndrome along with glucose-stimulated hyperinsulinemia, increased C-peptide and postprandial hypoglycemia. The  KCNE1  protein modulates Kv7.1 in cardiac myocytes, but is not expressed in beta cells. Gain-of-function mutations in  KCNQ1  and  KCNE1  shorten the action potential duration in cardiac myocytes, but their effect on beta cells and insulin secretion is unknown.    Case presentation  Two patients with atrial fibrillation due to gain-of-function mutations in  KCNQ1  (R670K) and  KCNE1  (G60D) were BMI-, age-, and sex-matched to six control participants and underwent a 6-h oral glucose tolerance test (OGTT). During the OGTT, the  KCNQ1  gain-of-function mutation carrier had 86% lower C-peptide response after glucose stimulation compared with matched control participants (iAUC 360min  = 34 pmol/l*min VS iAUC 360min  = 246 ± 71 pmol/l*min). The  KCNE1  gain-of-function mutation carrier had normal C-peptide levels.    Conclusions  This case story presents a patient with a gain-of-function mutation  KCNQ1  R670K with low glucose-stimulated C-peptide secretion, additionally suggesting involvement of the voltage-gated potassium channel  KCNQ1  in glucose-stimulated insulin regulation.

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report