Splicing Mutation of the Prostacyclin Synthase Gene in a Family Associated with Hypertension
- 152 Downloads
Prostacyclin inhibits platelet aggregation, and vasoconstriction . Prostacyclin synthase (PGIS, CYP 8A1, EC 18.104.22.168), a catalyst of prostacyclin formation from prostaglandin H2, is widely distributed and predominantly found in vascular endothelial and smooth muscle cells . The PGIS gene is localized to 20ql3.11-13 and thought to be a candidate gene for cardiovascular disease. We reported the organization of this gene . Furthermore, we identified a family with a nonsense mutation in exon 2 of the prostacyclin synthase gene, and this family displays a history of hypertension and cerebral infarction . These findings suggested that abnormality of the prostacyclin synthase gene may lead to altered vasodilation and platelet aggregation.
KeywordsEssential Hypertension Splice Site Mutation Splice Mutation Urinary Creatinine Excretion Essential Hypertension Patient
Unable to display preview. Download preview PDF.
- 6.Hatae T, Hara S, Yokoyama C, Yabuki T, Inoue H, Ullrich V, Tanabe T. Site-directed mutagenesis of human prostacyclin synthase: Alteration of Cys441 of the Cys-pocket, and Glu347 and Arg350 of the EXXR motif FEBS Lett 1996; 389:268–72.Google Scholar