title: Human cardiac ryanodine receptor mutations in ion channel disorders in Japan.
abstract: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by adrenergic induced bidirectional or polymorphic ventricular tachycardias. Some of CPVT families were reported to be associated with cardiac ryanodine receptor gene (RyR2) mutations. However, association between RyR2 and other arrhythmogenic disorders is not clarified. In this study, we analyzed 83 Japanese patients including patients with long-QT syndrome, Brugada syndrome, idiopathic ventricular fibrillation, arrhythmogenic right ventricular cardiomyopathy and CPVT. Genetic screening of RyR2 revealed 3 distinct mutations among 4 families with CPVT (75% of incidence). However, no mutation was found in other groups. This is the first report to demonstrate prevalence of RyR2 mutations in various arrhythmogenic disorders in Japan. RyR2 mutations were detected frequently in CPVT but not in other diseases.
authors.forename: Yoshiyasu
authors.initials: Y
authors.lastname: Aizawa
authors.forename: Wataru
authors.initials: W
authors.lastname: Mitsuma
authors.forename: Taruna
authors.initials: T
authors.lastname: Ikrar
authors.forename: Satoru
authors.initials: S
authors.lastname: Komura
authors.forename: Haruo
authors.initials: H
authors.lastname: Hanawa
authors.forename: Seiichi
authors.initials: S
authors.lastname: Miyajima
authors.forename: Fumito
authors.initials: F
authors.lastname: Miyoshi
authors.forename: Youichi
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Masaomi
authors.initials: M
authors.lastname: Chinushi
authors.forename: Akinori
authors.initials: A
authors.lastname: Kimura
authors.forename: Masayasu
authors.initials: M
authors.lastname: Hiraoka
authors.forename: Yoshifusa
authors.initials: Y
authors.lastname: Aizawa
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000378:metabolism*; D044466:Asian People / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D009206:Myocardium / Q000378:metabolism*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism
chemical_list: D007473:Ion Channels; D019837:Ryanodine Receptor Calcium Release Channel