The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.

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Abstract

Long QT Syndrome type 2 (LQT2) is caused by mutations in the KCNH2 gene that encodes for the α-subunit (hERG) of the ion channel conducting the rapid delayed rectifier potassium current (IKr). We have previously identified a disease causing mutation (IVS9-28A/G) in the branch point of the splicing of KCNH2 intron 9. However, the mechanism through which this mutation causes the disease is unknown.

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Journal

Journal ID (iso-abbrev): Int. J. Cardiol.

Title: International journal of cardiology

Publisher: Elsevier BV

ISSN (Electronic): 1874-1754

ISSN (Print): 0167-5273

Publication date (Electronic): Aug 01 2017

Volume: 240

Affiliations

[1 ] Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Coronary Care Unit and Laboratory of Clinical and Experimental Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

[2 ] National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore; Cardiovascular Academic Clinical Program, DUKE-NUS Medical School, Singapore.

[3 ] Laboratory of Oncohaematological Cytogenetics and Molecular Diagnostics, Division of Haematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

[4 ] Department of Clinical-Surgical, Diagnostic and Pediatric Science, Institute of Dermatology, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

[5 ] IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy.

[6 ] IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy.

[7 ] National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore; Cardiovascular & Metabolic Disorders Program, DUKE-NUS Medical School, Singapore. Electronic address: winston.shim.s.n@nhcs.com.sg.

[8 ] Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Coronary Care Unit and Laboratory of Clinical and Experimental Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Pavia, Italy; Department of Medicine, University of Cape Town, Cape Town, South Africa. Electronic address: m.gnecchi@unipv.it.

Article

Publisher Item ID: S0167-5273(17)30298-X

DOI: 10.1016/j.ijcard.2017.04.038

PubMed ID: 28433559

SO-VID: dd2161c6-fcfc-4c82-9211-a7e5ce7865ba

History

Keywords: Induced pluripotent stem cells,Cardiomyocytes,Long QT Syndrome,Splicing,Trafficking,hERG

Data availability:

Keywords: Induced pluripotent stem cells, Cardiomyocytes, Long QT Syndrome, Splicing, Trafficking, hERG

The KCNH2-IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2.

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