title: FKBP12.6 binding of ryanodine receptors carrying mutations associated with arrhythmogenic cardiac disease.
abstract: In the present paper we show that distinct human RyR2 (ryanodine receptor type 2) inherited mutations expressed in mammalian cells exhibit either unaltered or increased FKBP12.6 (12.6 kDa FK506-binding protein) binding compared with the wild-type. Oxidizing conditions result in decreased FKBP12.6 binding, but to the same extent as for the wild-type. Our findings suggest that FKBP12.6 regulation of RyR2 is unlikely to be the primary defect in inherited arrhythmogenic cardiac disease.
authors.affiliation: Wales Heart Research Institute, Department of Medicine-Cardiology, Cardiff University School of Medicine, Cardiff CF14 4XN, Wales, UK. zissimopouloss@cf.ac.uk
authors.forename: Spyros
authors.initials: S
authors.lastname: Zissimopoulos
authors.forename: N Lowri
authors.initials: NL
authors.lastname: Thomas
authors.forename: Wan W
authors.initials: WW
authors.lastname: Jamaluddin
authors.forename: F Anthony
authors.initials: FA
authors.lastname: Lai
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D003958:Diamide / Q000494:pharmacology; D006801:Humans; D006861:Hydrogen Peroxide / Q000494:pharmacology; D047468:Immunoprecipitation; D009154:Mutation; D011485:Protein Binding / Q000187:drug effects; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism*; D022021:Tacrolimus Binding Proteins / Q000378:metabolism*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D003958:Diamide; D006861:Hydrogen Peroxide; D022021:Tacrolimus Binding Proteins; C403484:tacrolimus binding protein 1B