Article
Age-dependent transition from islet insulin hypersecretion to hyposecretion in mice with the long QT-syndrome loss-of-function mutation Kcnq1-A340V.
Scientific reports - 10 Jun 2021
Lubberding Anniek F, Zhang Jinyi, Lundh Morten, Nielsen Thomas Svava, Søndergaard Mathilde S, Villadsen Maria, Skovhøj Emil Z, Boer Geke A, Hansen Jakob B, Thomsen Morten B, Treebak Jonas T, Holst Jens J, Kanters Jørgen K, Mandrup-Poulsen Thomas, Jespersen Thomas, Emanuelli Brice, Torekov Signe S
Abstract excerpt
Loss-of-function (LoF) mutations in KCNQ1, encoding the voltage-gated K+ channel Kv7.1, lead to long QT syndrome 1 (LQT1). LQT1 patients also present with post-prandial hyperinsulinemia and hypoglycaemia. In contrast, KCNQ1 polymorphisms are associated with diabetes, and LQTS patients have a higher prevalence of diabetes. We developed a mouse model with a LoF Kcnq1 mutation using CRISPR-Cas9 and hypothesized that...
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