scholarly journals Celebrities in the heart, strangers in the pancreatic beta‐cell: voltage‐gated potassium channels K v 7.1 and K v 11.1 bridge long QT syndrome with hyperinsulinemia as well as type 2 diabetes

2022 ◽  
Author(s):  
Anniek F. Lubberding ◽  
Christian R. Juhl ◽  
Emil Z. Skovhøj ◽  
Jørgen K. Kanters ◽  
Thomas Mandrup‐Poulsen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Potassium Channels ◽  
Beta Cell ◽  
Long Qt Syndrome ◽  
Pancreatic Beta Cell ◽  
Cell Voltage ◽  
Long Qt ◽  
Voltage Gated ◽  
Qt Syndrome

scholarly journals A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hyun Sok Yoo ◽  
Nancy Medina ◽  
María Alejandra von Wulffen ◽  
Natalia Ciampi ◽  
Analia Paolucci ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Frameshift Mutation ◽  
Alpha Subunit ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. Results A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. Conclusions The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

scholarly journals A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell

2014 ◽  
Vol 94 (2) ◽  
pp. 186-197 ◽  
Author(s):  
Jennifer R. Kulzer ◽  
Michael L. Stitzel ◽  
Mario A. Morken ◽  
Jeroen R. Huyghe ◽  
Christian Fuchsberger ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Beta Cell ◽  
Pancreatic Beta Cell ◽  
Regulatory Variant

scholarly journals A role for pancreatic beta-cell secretory hyperresponsiveness in catch-up growth hyperinsulinemia: Relevance to thrifty catch-up fat phenotype and risks for type 2 diabetes

2011 ◽  
Vol 8 (1) ◽  
pp. 2 ◽  
Author(s):  
Marina Casimir ◽  
Paula B de Andrade ◽  
Asllan Gjinovci ◽  
Jean-Pierre Montani ◽  
Pierre Maechler ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Beta Cell ◽  
Pancreatic Beta Cell ◽  
Catch Up

scholarly journals Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy

2016 ◽  
Vol 13 (3) ◽  
pp. 2467-2475 ◽  
Author(s):  
GUOLIANG LI ◽  
RUI SHI ◽  
JINE WU ◽  
WENQI HAN ◽  
AIFENG ZHANG ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome

2008 ◽  
Author(s):  
Ahmad S. Amin ◽  
Lucas J. Herfst ◽  
Brian P. Delisle ◽  
Christine A. Klemens ◽  
Martin B. Rook ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Ventricular Arrhythmias ◽  
Qtc Prolongation ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome
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