MUTATIONS IN CALMODULIN GENES

Michael Toft Overgaard (Inventor), Mette Nyegaard (Inventor), Anders Børglum (Inventor)

Research output: Patent

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.
Original languageEnglish
IPCC07K 14/47
Patent numberPCT/EP2013/057726
CountryDenmark
Publication statusPublished - 17 Oct 2013

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Calmodulin
Polynucleotides
Mutation
Genes
Peptides
Ryanodine Receptor Calcium Release Channel
Proteins

Bibliographical note

Applicants: AARHUS UNIVERSITET [DK]; AALBORG UNIVERSITET [DK]

Cite this

Overgaard, M. T., Nyegaard, M., & Børglum, A. (2013). IPC No. C07K 14/47. MUTATIONS IN CALMODULIN GENES. (Patent No. PCT/EP2013/057726).
Overgaard, Michael Toft (Inventor) ; Nyegaard, Mette (Inventor) ; Børglum, Anders (Inventor). / MUTATIONS IN CALMODULIN GENES. IPC No.: C07K 14/47. Patent No.: PCT/EP2013/057726.
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author = "Overgaard, {Michael Toft} and Mette Nyegaard and Anders B{\o}rglum",
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Overgaard, MT, Nyegaard, M & Børglum, A 2013, MUTATIONS IN CALMODULIN GENES, Patent No. PCT/EP2013/057726, IPC No. C07K 14/47.

MUTATIONS IN CALMODULIN GENES. / Overgaard, Michael Toft (Inventor); Nyegaard, Mette (Inventor); Børglum, Anders (Inventor).

IPC No.: C07K 14/47. Patent No.: PCT/EP2013/057726.

Research output: Patent

TY - PAT

T1 - MUTATIONS IN CALMODULIN GENES

AU - Overgaard, Michael Toft

AU - Nyegaard, Mette

AU - Børglum, Anders

N1 - Applicants: AARHUS UNIVERSITET [DK]; AALBORG UNIVERSITET [DK]

PY - 2013/10/17

Y1 - 2013/10/17

N2 - 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.

AB - 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.

M3 - Patent

M1 - PCT/EP2013/057726

ER -

Overgaard MT, Nyegaard M, Børglum A, inventors. MUTATIONS IN CALMODULIN GENES. C07K 14/47. 2013 Oct 17.