Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases

a bone mineral density and disease technology, applied in the field of bone mineral density related diseases, can solve the problems reducing bone mineral density, and and achieve the effect of reducing bone mineral density

Inactive Publication Date: 2010-11-11
INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Benefits of technology

[0009]The invention also relates to a compound selected from the group consisting of an inhibitor of TBXAS1 gene expression or...

Problems solved by technology

However the genes responsible for these effects are incompletely defined.
Most agents used to treat osteoporosis, such ...

Method used

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  • Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases
  • Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases
  • Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases

Examples

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example 1

[0146]Material & Methods:

[0147]Affected individuals: We studied 10 affected individuals belonging to 4 inbred families. Criteria diagnostic for inclusion were: i) severe anemia requiring blood infusions and ii) skeletal changes such as diaphyseal dysplasia with increase bone density, abnormal long bone modeling, cortical hyperostosis and normal metaphyses and epiphyses. DNA samples were obtained after signed informed consent;

[0148]Mutation detection: A series of 17 intronic primers was designed to amplify the 4 non-coding and 13 coding exons of the TBXAS1 gene. The amplification products were purified and sequenced using the fluorescent dideoxy-terminator method on an automatic sequencer (ABI 3100)

[0149]RT-PCR: Total RNAs were extracted from human muscle, primary culture cells (osteoblasts, chondrocytes and fibroblasts) and from cord blood cells transdifferentiation into osteoclasts using the RNeasy Mini Kit (Qiagen). cDNA were synthetized by priming with random hexamers in the pres...

example 2

[0170]In this example, several thromboxane inhibitors are tested for their ability to treat diseases associated with a decreased bone mineral density, in various models and in human patients.

[0171]Thomboxane Inhibitors[0172]Ozagrel is a thromboxane synthase inhibitor (Cayman Chemical) It is administered orally to adults at a dosage of 800 mg / day.[0173]Picotamide is a dual-acting thromboxane receptor antagonist and thromboxane synthase inhibitor (Plactidil®, from Novartis). It is administered orally to adults, twice per day, at a dose of 600 mg.[0174]Seratrodast is a thromboxane receptor antagonist (Takeda, Abott). It is administered orally to adults at 80 mg / day.

[0175]Diseases Associated with a Decreased Bone Mineral Density

[0176]1) In Vitro Model

[0177]Primary cultures of human osteoblasts are cultured in the presence or absence of the thromboxane inhibitors.

[0178]The following variables are measured:

[0179]levels of TCB2 are assayed by ELISA;

[0180]levels of RANKL / OPG are assayed by ...

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Abstract

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).

Description

FIELD OF THE INVENTION[0001]The present invention relates to methods for the treatment and diagnosis of bone mineral density related disorders. More particularly, the present invention is based on the discovery that thromboxane synthase plays a role in bone mineral density variation.BACKGROUND OF THE INVENTION[0002]Vertebral bone quality is essential in vertebral strength. A major factor of bone quality is the bone mineral density and its distribution throughout the bone and several evidences now show that bone mineral density impacts several human conditions.[0003]Osteoporosis, or porous bone, is a disease characterized by low bone mineral density, leading to bone fragility and an increased susceptibility to fractures, especially of the hip, spine and wrist, although any bone can be affected. If not prevented or if left untreated, osteoporosis can progress painlessly until a bone breaks. It is estimated that Osteoporosis is responsible for more than 1.5 million fractures annually, ...

Claims

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Application Information

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IPC IPC(8): A61K38/53C12Q1/68A61K31/7052A61K31/35A61P19/08
CPCC12Q1/6883C12Q2600/156C12Q2600/136A61K31/357A61K38/52A61P19/08A61P19/10A61P43/00C12Y503/99005
Inventor CORMIER-DAIRE, VALERIEMUNNICH, ARNOLD
Owner INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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