Treatment of bone mineral density related diseases

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, osteogenesis imperfecta)

Keywords: osteogenesis imperfecta
Patent Application number: EP07301643.8
Inventors:
Valérie CORMIER-DAIREArnold MUNNICH

Reference:

BIO07572-T1

Business Developper
contact
Aymeric Empereur
Aymeric Empereur
Business Developer
Patent filling date: 2007-12-07
Rare disease: Yes

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