Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT

Freigegeben

Zeitschriftenartikel

A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation

MPG-Autoren
/persons/resource/persons224272

Reischauer,  Sven
Developmental Genetics, Max Planck Institute for Heart and Lung Research, Max Planck Society;

/persons/resource/persons224278

Stainier,  Didier Y.R.
Developmental Genetics, Max Planck Institute for Heart and Lung Research, Max Planck Society;

Externe Ressourcen
Es sind keine externen Ressourcen hinterlegt
Volltexte (beschränkter Zugriff)
Für Ihren IP-Bereich sind aktuell keine Volltexte freigegeben.
Volltexte (frei zugänglich)
Es sind keine frei zugänglichen Volltexte in PuRe verfügbar
Ergänzendes Material (frei zugänglich)
Es sind keine frei zugänglichen Ergänzenden Materialien verfügbar
Zitation

Orr, N., Arnaout, R., Gula, L. J., Spears, D. A., Leong-Sit, P., Li, Q., et al. (2016). A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. NATURE COMMUNICATIONS, 7: 11303. doi:10.1038/ncomms11303.


Zitierlink: https://hdl.handle.net/21.11116/0000-0001-C045-8
Zusammenfassung
Atrial fibrillation (AF), the most common arrhythmia, is a growing epidemic with substantial morbidity and economic burden. Mechanisms underlying vulnerability to AF remain poorly understood, which contributes to the current lack of highly effective therapies. Recognizing mechanistic subtypes of AF may guide an individualized approach to patient management. Here, we describe a family with a previously unreported syndrome characterized by early-onset AF (age <35 years), conduction disease and signs of a primary atrial myopathy. Phenotypic penetrance was complete in all mutation carriers, although complete disease expressivity appears to be age-dependent. We show that this syndrome is caused by a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4. In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF. These findings describe the cause of a rare subtype of AF due to a primary, atrial-specific sarcomeric defect.