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Gene eNOS, Molecular Detection of T786C Mutation

Molecular screening for the T786C polymorphism of the endothelial nitric oxide synthase (eNOS) gene is performed to assess the risk of thrombosis in asymptomatic patients with a severe familial history or in patients who have already had a thrombotic thrombus.

Nitric oxide (NO) plays an important role in maintaining basic vascular tone. NO is a muscle relaxant for smooth muscles and inhibits platelet adhesion, activation and aggregation. A deficiency in NO synthesis can be a predisposing factor for coronary artery disease, angina and myocardial infarction. The endothelium-derived NO is synthesized from the amino acid L-arginine by the enzyme endothelial nitric oxide synthase (eNOS). This enzyme is encoded by the NOS3 gene located on chromosome 7. The presence of the T786C polymorphism in the 5 'region of the NOS3 gene causes a significant decrease in gene activity. This results in reduced endothelial synthesis of the enzyme endothelial nitric oxide synthase and consequently reduced nitrogen monoxide synthesis, which poses a greater risk for coronary artery disease. In addition, it has been found that T786C polymorphism is a risk factor for the occurrence of preeclampsia during pregnancy.

Thrombophilia is an acquired or congenital disorder associated with thrombosis. The clinical appearance of an underlying thrombophilia mainly involves venous thromboembolism, which is manifested as deep vein thrombosis, pulmonary embolism, or superficial vein thrombosis. Other events associated with thrombophilia include prolonged (recurrent) miscarriages and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal endometrial death. The demographic and environmental characteristics that contribute to the risk of venous thromboembolism in people predisposed to thrombophilia include: old age, gender (more commonly in men), obesity, surgery, trauma, hospitalization, etc. malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen and raloxifene) and certain drugs used to treat low blood glucose levels in hypoglycemia.

 

 

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