Human cardiac ryanodine receptor mutations in ion channel disorders in Japan.
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.
Aizawa
Yoshiyasu
Y
Mitsuma
Wataru
W
Ikrar
Taruna
T
Komura
Satoru
S
Hanawa
Haruo
H
Miyajima
Seiichi
S
Miyoshi
Fumito
F
Kobayashi
Youichi
Y
Chinushi
Masaomi
M
Kimura
Akinori
A
Hiraoka
Masayasu
M
Aizawa
Yoshifusa
Y
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
D007473:Ion Channels; D019837:Ryanodine Receptor Calcium Release Channel