Methods and composition for diagnosing and treating pseudoxanthoma elasticum and related conditions
AssigneesPXE International, Inc., University of Hawaii
InventorsCharles D. Boyd, Katalin Csiszar, Olivier LeSaux, Zsolt Urban, Sharon Terry
Life of this patent
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Abstract
Methods and compositions are provided for diagnosing and treating Pseudoxanthoma elasticum (PXE) patients and PXE carriers. Methods and compositions are based on the discovery that PXE mutations are located in the MRP6 (ABCC6) gene.
Claims33
A method for screening for the presence of a PXE mutation, the method comprising the steps of:
- interrogating an MRP6 nucleic acid in a patient sample for the presence of a PXE mutation;
- and,
- identifying a positive screen as the presence of said mutation.
A method for screening for the presence of a PXE mutation, the method comprising the steps of:
- detecting MRP6 expression;
- and,
- identifying a positive screen as one that detects a level of MRP6 expression that is
- lower than normal MRP6 expression.
A method for screening for the presence of a PXE mutation, the method comprising the steps of:
- interrogating an MRP6 protein in a patient for the presence of a PXE protein change;
- and,
- identifying a positive screen as the presence of said change.
An oligonucleotide for use in an assay to detect a PXE associated mutation, wherein said oligonucleotide hybridizes to a PXE mutation in an MRP6 nucleic acid under stringent conditions.
An oligonucleotide of claim 32, wherein said oligonucleotide is selected from the group consisting of the oligonucleotides of SEQ ID NO:
- 10 through SEQ ID NO:
- 25.
A method for identifying a patient at risk of having children with PXE, the method comprising the step of interrogating a patient sample for the presence of a PXE mutant MRP6 allele.
A method for identifying a patient at risk of developing a PXE associated symptom, the method comprising the step of interrogating a patient sample for the presence of a PXE mutant MRP6 allele.
A method for diagnosing PXE in a patient, the method comprising the step of interrogating a patient sample for the presence of two PXE mutant MRP6 alleles.
Dependencies are inferred from the claim text.