Methods for diagnosing and treating heart disease
OwnerMark C. Fishman, Wolfgang Rottbauerinventors
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Abstract
The invention provides methods of diagnosing heart disease, such as cardiac arrhythmia, methods for identifying compounds that can be used to treat or to prevent heart disease, and methods of using these compounds to treat or to prevent heart disease. Also provided in the invention are animal model systems that can be used in screening methods.
Claims39
A method of determining whether a test subject has, or is at risk of developing, a disease or condition related to an α1C subunit of a voltage-dependent L-type calcium channel, said method comprising analyzing a nucleic acid molecule of a sample from the test subject to determine whether the test subject has a mutation in a gene encoding said subunit, wherein the presence of a mutation indicates that said test subject has, or is at risk of developing, a disease related to an α1C subunit of a voltage-dependent L-type calcium channel.
A method for identifying a compound that can be used to treat or to prevent heart disease, said method comprising contacting an organism comprising a mutation in a gene encoding an α1C subunit of a voltage-dependent L-type calcium channel and having a phenotype characteristic of heart disease with said compound, and determining the effect of said compound on said phenotype, wherein detection of an improvement in said phenotype indicates the identification of a compound that can be used to treat or to prevent heart disease.
A method of treating or preventing heart disease in a patient, said method comprising administering to said patient a functional α1C subunit of a voltage-dependent L-type calcium channel or an expression vector comprising a nucleic acid molecule encoding said subunit.
A substantially pure zebrafish α1C subunit of a voltage-dependent L-type calcium channel.
A substantially pure nucleic acid molecule comprising a sequence encoding a zebrafish α1C subunit of a voltage-dependent L-type calcium channel.
A non-human animal having a knockout mutation in one or both alleles encoding a α1C subunit polypeptide.
A non-human transgenic animal comprising a nucleic acid molecule encoding a mutant α1C subunit of a voltage-dependent L-type calcium channel.
An antibody that specifically binds to an α1C subunit of a voltage-dependent L-type calcium channel.
Use of a α1C subunit of a voltage-dependent L-type calcium channel or an expression vector comprising a nucleic acid molecule encoding said subunit in the preparation of a medicament for treating or preventing heart disease in a patient.
Dependencies are inferred from the claim text.