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

Article Details

Citation

Copy to clipboard

Genevieve D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, Picard C, Vignon-Savoye C, Bader-Meunier B, Blanche S, de Vernejoul MC, Legeai-Mallet L, Fischer AM, Le Merrer M, Dreyfus M, Gaussem P, Munnich A, Cormier-Daire V

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

Nat Genet. 2008 Mar;40(3):284-6. doi: 10.1038/ng.2007.66. Epub 2008 Feb 10.

PubMed ID

18264100 [ View in PubMed

]

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.

DrugBank Data that Cites this Article

Polypeptides

Name	UniProt ID
Thromboxane-A synthase	P24557	Details

Pharmaco-transcriptomics

Drug	Drug Groups	Gene	Gene ID	Change	Interaction	Chromosome
Ozagrel	Investigational	TNFRSF11B	4982	upregulated	ozagrel results in increased expression of TNFRSF11B mRNA	8q24.12
Ozagrel	Investigational	TNFSF11	8600	downregulated	ozagrel results in decreased expression of TNFSF11 mRNA	13q14