Nature Communications (Apr 2016)
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
- Fernande Freyermuth,
- Frédérique Rau,
- Yosuke Kokunai,
- Thomas Linke,
- Chantal Sellier,
- Masayuki Nakamori,
- Yoshihiro Kino,
- Ludovic Arandel,
- Arnaud Jollet,
- Christelle Thibault,
- Muriel Philipps,
- Serge Vicaire,
- Bernard Jost,
- Bjarne Udd,
- John W. Day,
- Denis Duboc,
- Karim Wahbi,
- Tsuyoshi Matsumura,
- Harutoshi Fujimura,
- Hideki Mochizuki,
- François Deryckere,
- Takashi Kimura,
- Nobuyuki Nukina,
- Shoichi Ishiura,
- Vincent Lacroix,
- Amandine Campan-Fournier,
- Vincent Navratil,
- Emilie Chautard,
- Didier Auboeuf,
- Minoru Horie,
- Keiji Imoto,
- Kuang-Yung Lee,
- Maurice S. Swanson,
- Adolfo Lopez de Munain,
- Shin Inada,
- Hideki Itoh,
- Kazuo Nakazawa,
- Takashi Ashihara,
- Eric Wang,
- Thomas Zimmer,
- Denis Furling,
- Masanori P. Takahashi,
- Nicolas Charlet-Berguerand
Affiliations
- Fernande Freyermuth
- Department of Translational medicine and neurogenetics
- Frédérique Rau
- Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie UMRS974/FRE3617
- Yosuke Kokunai
- Department of Neurology, Osaka University Graduate School of Medicine
- Thomas Linke
- Department of Physiology, Friedrich Schiller University Hospital
- Chantal Sellier
- Department of Translational medicine and neurogenetics
- Masayuki Nakamori
- Department of Neurology, Osaka University Graduate School of Medicine
- Yoshihiro Kino
- Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University
- Ludovic Arandel
- Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie UMRS974/FRE3617
- Arnaud Jollet
- Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie UMRS974/FRE3617
- Christelle Thibault
- Department of Translational medicine and neurogenetics
- Muriel Philipps
- Department of Translational medicine and neurogenetics
- Serge Vicaire
- Department of Translational medicine and neurogenetics
- Bernard Jost
- Department of Translational medicine and neurogenetics
- Bjarne Udd
- Neuromuscular Research Center, Tampere University and University Hospital
- John W. Day
- Department of Neurology, Stanford University
- Denis Duboc
- Service de Cardiologie, Université Paris-Descartes
- Karim Wahbi
- Service de Cardiologie, Université Paris-Descartes
- Tsuyoshi Matsumura
- Department of Neurology, Toneyama National Hospital
- Harutoshi Fujimura
- Department of Neurology, Toneyama National Hospital
- Hideki Mochizuki
- Department of Neurology, Osaka University Graduate School of Medicine
- François Deryckere
- CNRS UMR7175, Ecole Supérieure de Biotechnologies de Strasbourg
- Takashi Kimura
- Division of Neurology, Hyogo Medical College
- Nobuyuki Nukina
- Laboratory of Structural Neuropathology, Doshisha University Graduate School of Brain Science
- Shoichi Ishiura
- Graduate School of Arts and Sciences, University of Tokyo
- Vincent Lacroix
- Université Lyon 1, CNRS, UMR5558 LBBE
- Amandine Campan-Fournier
- Hospices civils de Lyon, Laboratoire de cytogénétique constitutionelle
- Vincent Navratil
- Pôle Rhône Alpes de Bioinformatique
- Emilie Chautard
- Centre de Recherche en Cancérologie de Lyon
- Didier Auboeuf
- Centre de Recherche en Cancérologie de Lyon
- Minoru Horie
- Department of Cardiovascular and Respiratory Medicine, Shiga Medical University
- Keiji Imoto
- Department of Information Physiology, National Institute for Physiological Sciences
- Kuang-Yung Lee
- Department of Neurology, Chang Gung Memorial Hospital
- Maurice S. Swanson
- Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine
- Adolfo Lopez de Munain
- Department of Neurology, Hospital Universitario DONOSTIA, Neuroscience Area, Institute Biodonostia CIBERNED and University of Basque Country UPV-EHU
- Shin Inada
- Laboratory of Biomedical Sciences and Information Management, National Cerebral and Cardiovascular Center Research Institute
- Hideki Itoh
- Department of Cardiovascular and Respiratory Medicine, Shiga Medical University
- Kazuo Nakazawa
- Laboratory of Biomedical Sciences and Information Management, National Cerebral and Cardiovascular Center Research Institute
- Takashi Ashihara
- Department of Cardiovascular and Respiratory Medicine, Shiga Medical University
- Eric Wang
- Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine
- Thomas Zimmer
- Department of Physiology, Friedrich Schiller University Hospital
- Denis Furling
- Sorbonne Universités UPMC Univ Paris 06, Inserm, CNRS, Centre de Recherche en Myologie UMRS974/FRE3617
- Masanori P. Takahashi
- Department of Neurology, Osaka University Graduate School of Medicine
- Nicolas Charlet-Berguerand
- Department of Translational medicine and neurogenetics
- DOI
- https://doi.org/10.1038/ncomms11067
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 14
Abstract
Patients with myotonic dystrophy (MD) suffer from severe cardiac issues of unknown aetiology. Freyermuth et al. show that fatal changes in cardiac electrophysiological properties in humans and mice with MD may arise from misregulation of the alternative splicing of the cardiac Na+ channel SCN5Atranscript, resulting in expression of its fetal form.
