Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

David Genevieve; Valerie Proulle; Bertrand Isidor; Samuel Bellais; Valerie Serre; Fatima Djouadi; Capucine Picard; Capucine Vignon-Savoye; Brigitte Bader-Meunier; Stephane Blanche; Marie-Christine de Vernejoul; Laurence Legeai-Mallet; Anne-Marie Fischer; Martine Le Merrer; Marie Dreyfus; Pascale Gaussem; Arnold Munnich; Valerie Cormier-Daire

doi:10.1038/ng.2007.66

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Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

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Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)

David Genevieve, Valerie Proulle, Bertrand Isidor, Samuel Bellais, Valerie Serre, Fatima Djouadi, Capucine Picard, Capucine Vignon-Savoye, Brigitte Bader-Meunier, Stephane Blanche, …

Nature genetics, Vol.40(3), pp.284-286

01/03/2008

DOI: https://doi.org/10.1038/ng.2007.66

PMID: 18264100

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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 TXA2 modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts.

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Titre: Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
Créateurs - sans rôle: David Genevieve - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Valerie Proulle - Univ Paris Sud, Hop Kremlin Bicetre, AP HP,Lab Hematol, F-94275 Le Kremlin Bicetre, France
Bertrand Isidor - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Samuel Bellais - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Valerie Serre - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Fatima Djouadi - CNRS, UPR9078, F-75015 Paris, France
Capucine Picard - Hop Necker Enfants Malad, AP HP,Unite Immunohematol & Rhumatol, F-75015 Paris, France
Capucine Vignon-Savoye - Ctr Hosp Intercommunal Le Raincy Montfermeil, Serv Pediat, F-93370 Montfermeil, France
Brigitte Bader-Meunier - Assistance Publique – Hôpitaux de Paris
Stephane Blanche - Assistance Publique – Hôpitaux de Paris
Marie-Christine de Vernejoul - Hop Lariboisiere, AP HP, Dept Rhumatol, F-75010 Paris, France
Laurence Legeai-Mallet - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Anne-Marie Fischer - Hop Europeen Georges Pompidou, AP HP, Lab Hematol, F-75015 Paris, France
Martine Le Merrer - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Marie Dreyfus - Univ Paris Sud, Hop Kremlin Bicetre, AP HP,Lab Hematol, F-94275 Le Kremlin Bicetre, France
Pascale Gaussem - Hop Europeen Georges Pompidou, AP HP, Lab Hematol, F-75015 Paris, France
Arnold Munnich - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Valerie Cormier-Daire - Univ Paris 05, AP HP,Hop Necker Enfants Malades, Dept Genet, INSERM,Unite U781, F-75015 Paris, France
Détails de publication: Nature genetics, Vol.40(3), pp.284-286
Éditeur: Springer Nature
Nombre de pages: 3
Identifiants: 99141188509311
Unité académique: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Langue: English
Type de ressource: Journal article