Sodium channel alpha subunits
OwnerJonathan C. Makielski, Bin Yeinventors
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Abstract
The present invention discloses the cDNA sequence and the expressed amino acid sequence of a sodium channel α subunit, termed hH1b. A specific mutation in hH1b has been shown to display a different phenotype in relation to a human heart disease than other known human sodium channel α subunits with corresponding mutations. The present inventions provides new tools to design or identify new diagnostic and treatment strategies or agents for sodium channel related diseases or conditions.
Claims15
An isolated polypeptide comprising a sequence selected from the group consisting of SEQ ID NO:
- 2 and SEQ ID NO:
- 2 carrying a conservative substitution, deletion or rearrangement at one or more non-critical amino acid position.
An isolated polynucleotide that encodes a polypeptide comprising a sequence selected from the group consisting of SEQ ID NO:
- 2 and SEQ ID NO:
- 2 carrying a conservative substitution, deletion or rearrangement at one or more non-critical amino acid position.
An isolated nucleic acid comprising at least 20 contiguous nucleotides of SEQ ID NO:
- 1 including at least one of a codon that encodes amino acid 558 and a codon that encodes amino acid 618.
An antibody that binds specifically to an immunogenic fragment of SEQ ID NO:
- 2 that contains at least one of amino acid 558 and amino acid 618 of SEQ ID NO:
- 2
A method for identifying an agent that can alter the activity of a sodium channel relative to a standard, the method comprising the steps of:
- providing a cultured cell comprising a polynucleotide that encodes a polypeptide comprising a sequence selected from the group consisting of SEQ ID NO:
- 2 and SEQ ID NO:
- 2 carrying a conservative substitution, deletion or rearrangement at one or more non-critical amino acid position, the polynucleotide being operably linked to a non-native expression control sequence;
- producing the polypeptide in the cell;
- exposing the cell to the agent;
- and
- determining the sodium channel activity of the cell, an alteration in sodium channel activity being an indication that the agent is an activity-altering agent.
A method for determining whether a biological sample contains an hH1b form of a sodium channel α subunit, the method comprising the steps of:
- contacting the sample with an hH1b-specific antibody;
- and
- determining whether the antibody specifically binds to a component in the sample, said binding being an indication that the sample contains the hH1b form of the sodium channel a subunit.
A method for determining whether a human or non-human subject is at risk for Long QT syndrome, the method comprising the step of:
- determining whether the subject carries an hH1b form of an SCN5A gene.
Dependencies are inferred from the claim text.