Piezo Type Mechanosensitive Ion Channel Component 1 (PIEZO1) Variants And Uses Thereof
AssigneeRegeneron Pharmaceuticals, Inc.
InventorJoshua Backman
Life of this patent
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Abstract
Methods of treating patients having varicose veins, methods of identifying subjects having an increased risk of developing varicose veins, and methods of diagnosing varicose veins in a human subject, comprising detecting the presence of Piezo Type Mechanosensitive Ion Channel Component 1 (PIEZO1) predicted loss-of-function variant nucleic acid molecules and polypeptides in a biological sample from the patient or subject, are provided herein.
Claims29
A method of identifying a human subject having an increased risk of developing varicose veins, Wherein the method comprises determining or having determined in a biological sample obtained from the subject the presence or absence of:
- a Piezo Type Mechanosensitive Ion Channel Component 1 (PIEZO1) predicted loss-of-function variant genomic nucleic acid molecule;
- a PIEZO1 predicted loss-of-function variant mRNA molecule;
- a PIEZO1 predicted loss-of-function variant cDNA molecule produced from the mRNA molecule;
- or
- a PIEZO1 predicted loss-of-function variant polypeptide;
- wherein:
- the absence of the PIEZO1 predicted loss-of-function variant genomic nucleic acid molecule, mRNA molecule, cDNA molecule, or polypeptide indicates that the subject does not have an increased risk for developing varicose veins;
- and
- the presence of the PIEZO1 predicted loss-of-function variant genomic nucleic acid molecule, mRNA molecule, cDNA molecule, or polypeptide indicates that the subject has an increased risk for developing varicose veins.
A method of diagnosing varicose veins in a human subject, wherein the method comprises detecting in a sample obtained from the subject the presence or absence of:
- a Piezo Type Mechanosensitive Ion Channel Component 1 (PIEZO1) predicted loss-of-function variant genomic nucleic acid molecule;
- a PIEZO1 predicted loss-of-function variant mRNA molecule;
- a PIEZO1 predicted loss-of-function variant cDNA molecule produced from the mRNA molecule;
- or
- a PIEZO1 predicted loss-of-function variant polypeptide;
- wherein when the subject has a PIEZO1 predicted loss-of-function variant genomic nucleic acid molecule, mRNA molecule, cDNA molecule, or polypeptide, and has one or more symptoms of varicose veins, then the subject is diagnosed as having varicose veins.
A method of treating a patient with a therapeutic agent that treats or inhibits varicose veins, wherein the patient is suffering from varicose veins or has an increased risk of developing varicose veins, the method comprising the steps of:
- determining whether the patient has a Piezo Type Mechanosensitive Ion Channel Component 1 (PIEZO1) predicted loss-of-function variant nucleic acid molecule encoding a human PIEZO1 polypeptide by:
- obtaining or having obtained a biological sample from the patient;
- and
- performing or having performed a genotyping assay on the biological sample to determine if the patient has a genotype comprising the PIEZO1 predicted loss-of-function variant nucleic acid molecule;
- and
- administering or continuing to administer to a PIEZO1 reference patient the therapeutic agent that treats or inhibits the varicose veins in a standard dosage amount;
- or
- administering or continuing to administer to a patient that is heterozygous or homozygous for a PIEZO1 predicted loss-of-function variant nucleic acid molecule the therapeutic agent that treats or inhibits the varicose veins in an amount that is the same as or greater than the standard dosage amount;
- wherein the presence of a genotype having the PIEZO1 predicted loss-of-function variant nucleic acid molecule encoding the human PIEZO1 polypeptide indicates the patient has an increased risk of developing varicose veins.
Dependencies are inferred from the claim text.