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1. (WO2013153214) MUTATIONS IN CALMODULIN GENES

Pub. No.:    WO/2013/153214    International Application No.:    PCT/EP2013/057726
Publication Date: Fri Oct 18 01:59:59 CEST 2013 International Filing Date: Sat Apr 13 01:59:59 CEST 2013
IPC: C07K 14/47
Applicants: AARHUS UNIVERSITET
AALBORG UNIVERSITET
Inventors: OVERGAARD, Michael Toft
NYEGAARD, Mette
BØRGLUM, Anders
Title: MUTATIONS IN CALMODULIN GENES
Abstract:
The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The present invention also relates to a method for determining whether an individual has an increased risk of contracting a cardiac disorder, a method for diagnosing a cardiac disorder, method for treatment of an individual having a cardiac disorder, method for identifying a compound, capable of enhancing the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes.