Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) |
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Authors: | Geneviève David Proulle Valérie Isidor Bertrand Bellais Samuel Serre Valérie Djouadi Fatima Picard Capucine Vignon-Savoye Capucine Bader-Meunier Brigitte Blanche Stéphane de Vernejoul Marie-Christine Legeai-Mallet Laurence Fischer Anne-Marie Le Merrer Martine Dreyfus Marie Gaussem Pascale Munnich Arnold Cormier-Daire Valérie |
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Institution: | Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-H?pitaux de Paris (AP-HP), H?pital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France. |
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Abstract: | Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with GHDD showed a specific deficit in arachidonic acid-produced aggregation. We also found that TXAS and TXA(2) modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts. |
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