Mutations In Calmodulin Genes
AssigneesAarhus Universitet, Aalborg Universitet
InventorsMichael Toft Overgaard, Mette Nyegaard, Anders Borglum
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AssigneesAarhus Universitet, Aalborg Universitet
InventorsMichael Toft Overgaard, Mette Nyegaard, Anders Borglum
Estimating the term…
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.
An isolated polynucleotide encoding calmodulin (CaM), or at least a part of calmodulin (CaM), wherein said polynucleotide comprises at least one mutation associated with a cardiac disorder.
2-15. (canceled)
An isolated polypeptide comprising calmodulin (CaM), or at least a part of a calmodulin protein (CaM), wherein said polypeptide comprises at least one mutation associated with a cardiac disorder.
17-35. (canceled)
A method for determining whether an individual has an increased risk of contracting a cardiac disorder or sudden cardiac death, wherein said method comprises
(canceled)
(canceled)
A method for diagnosing a cardiac disorder of an individual, wherein said method comprises
40-43. (canceled)
A method for treatment of an individual having a cardiac disorder associated with at least one mutation in CALM1 (SEQ ID NO:1), CALM 2 (SEQ ID NO:2) and/or CALM3 (SEQ ID NO:3) and/or in a polynucleotide having at least 90% sequence identity with SEQ ID NO:1, SEQ ID NO:2 and/or SEQ ID NO:3 or part thereof, wherein said mutation results in the mutated calmodulin having one or more altered functional property compared to wild type calmodulin, said method comprising administering to said individual an agent capable of restoring and/or improving the altered functional property to the level in wild type calmodulin.
45-57. (canceled)
A method for identifying a compound, capable of enhancing the binding of calmodulin to ryanodine receptor 2, wherein said calmodulin comprises at least one mutation that decreases the binding affinity to ryanodine receptor 2, said method comprising
(canceled)
A method for identifying a compound, capable of enhancing the binding of calmodulin to calcium (Ca2+), wherein said calmodulin comprises at least one mutation that decreases the binding affinity to calcium (Ca2+) (and which preferably reduces or abolishes binding to calcium (Ca2+)), said method comprising
61-72. (canceled)
A pharmaceutical composition for use in the treatment of an individual having a cardiac disorder associated with at least one mutation in CALM1 (SEQ ID NO:1), CALM2 (SEQ ID NO:2) and/or CALM 3 (SEQ ID NO:3, wherein said mutation results in the mutated calmodulin having one or more altered functional property compared to wild type calmodulin, and wherein said composition comprises an agent capable of restoring and/or improving the altered functional property to the level in wild type calmodulin.
74-83. (canceled)
A kit for detecting at least one mutation in a polynucleotide encoding calmodulin (CaM), or at least a part of calmodulin (CaM), wherein said kit comprises at least one oligonucleotide that is complementary to a sequence of said calmodulin encoding gene such that if the mutation is present in the polynucleotide, strand elongation from said oligonucleotide results in an extension product comprising said mutation.
85-96. (canceled)
Dependencies are inferred from the claim text.