Methods of compositions for diagnosing and treating chromosome-18p related disorders
OwnerNelson B. Freimer, Victor I. Reus +6inventors
InventorsNelson B. Freimer, Victor I. Reus, Susan K. Service, Lynne Allison McInnes, Hong Chen, Pedro Leon, Lodewijk A. Sandkuijl, L. Sandkuijl-Schakenbos
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Abstract
The present invention relates to the mammalian HKNG1 gene, a gene associated with bipolar affective disorder (BAD) in humans. The invention relates, in particular, to methods for the diagnostic evaluation, genetic testing and prognosis of HKNG1 neuropsychiatric disorders including schizophrenia, attention deficit disorder, a schizoaffective disorder, a bipolar affective disorder or a unipolar affective disorder.
Claims42
An isolated nucleic acid molecule comprising a nucleotide sequence that encodes a HKNG1 gene product comprising:
- (a) the amino acid sequence of SEQ ID NO:2;
- (b) the amino acid sequence of SEQ ID NO:4;
- (c) the amino acid sequence of SEQ ID NO:39;
- (d) the amino acid sequence of SEQ ID NO:41;
- (e) the amino acid sequence of SEQ ID NO:43;
- (f) the amino acid sequence of SEQ ID NO:45;
- (g) the amino acid sequence of SEQ ID NO:49;
- or
- (h) the amino acid sequence of SEQ ID NO:66.
An isolated nucleic acid molecule consisting of a nucleotide sequence that encodes a mature HKNG1 protein having the amino acid sequence of SEQ ID NO:51.
An isolated polypeptide comprising the amino acid sequence of a HKNG1 gene product having:
- (a) the amino acid sequence of SEQ ID NO:2;
- (b) the amino acid sequence of SEQ ID NO:4;
- (c) the amino acid sequence of SEQ ID NO:39;
- (d) the amino acid sequence of SEQ ID NO:41;
- (e) the amino acid sequence of SEQ ID NO:43;
- (f) the amino acid sequence of SEQ ID NO:45;
- or
- (g) the amino acid sequence of SEQ ID NO:49;
- (h) the amino acid sequence of SEQ ID NO:66.
An isolated polypeptide consisting of a mature HKNG1 gene product having the amino acid sequence of SEQ ID NO:51.
A method for treating a HKNG1-mediated disorder in an individual comprising administering to the individual a compound which modulates the expression of an HKNG1 gene in the individual.
A method for treating a HKNG1-mediated disorder in an individual comprising administering to the individual a compound which modulates the expression or activity of a HKNG1 gene product in the individual.
A method for identifying a compound which modulates expression of an HKNG1 gene comprising:
- (a) contacting a test compound to a cell that expresses an HKNG1 gene;
- (b) measuring a level of HKNG1 gene expression in the cell;
- (c) comparing the level of HKNG1 gene expression in the cell in the presence of the test compound to a level of HKNG1 gene expression in the cell in the absence of the test compound, wherein if the level of HKNG1 gene expression in the cell in the presence of the test compound differs from the level of expression of the HKNG1 gene in the cell in the absence of the test compound, a compound that modulates expression of an HKNG1 gene is identified.
A method for identifying a compound which modulates expression or activity of an HKNG1 gene product comprising:
- (a) contacting a test compound to a cell that expresses an HKNG1 gene product;
- (b) measuring a level of HKNG1 gene product expression or activity in the cell;
- (c) comparing the level of HKNG1 gene product expression or activity in the cell in the presence of the test compound to a level of HKNG1 gene product expression or activity in the cell in the absence of the test compound,
- wherein if the level of HKNG1 gene product expression or activity in the cell in the presence of the test compound differs from the level of HKNG1 gene product expression or activity in the cell in the absence of the test compound, a compound that modulates expression or activity of an HKNG1 gene product is identified.
A method for identifying an individual having or at risk of developing a HKNG1-mediated disorder comprising the step of detecting the presence or absence of a polymorphism that correlates with an HKNG1 allele associated with the disorder, wherein presence of the polymorphism indicates that the individual has or is at risk of developing the HKNG1-mediated disorder.
Dependencies are inferred from the claim text.