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AssigneeInserm (Institut National De La Sante Et De La Recherche Medicale)
InventorsValerie Cormier-Daire, Arnold Munnich
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The present invention relates to methods of the treatment and diagnosis of bone mineral density related disorders. More particularly, the present invention relates to a method of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of said mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease. The invention also relates to a compound selected in the group consisting of a thromboxane synthase (TXAS) encoding polynucleotide, a TXAS, thromboxane A2 or an analog thereof for treating or preventing a disease associated with an increased bone mineral density (e.g., Ghosal hematodiaphyseal dysplasia syndrome). The invention also relates to a compound selected from the group consisting of an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis).
A method of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of said mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease, wherein said method comprises the step of detecting a TBXAS1 mutation in a nucleic acid sample obtained from said subject.
A method for treating or preventing a disease associated with an increased bone mineral density comprising administering to a subject in need thereof a compound selected in the group consisting of a TXAS encoding polynucleotide, TXAS, thromboxane A2 or an analog thereof.
A method for treating or preventing a disease associated with a decreased bone mineral density comprising administering to a subject in need thereof a compound selected from the group consisting of an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor.
Dependencies are inferred from the claim text.