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Gene eNOS, Molecular Detection of G894T Mutation

Molecular screening for the G894T 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. Substitution of Guanine by Thymine at nucleotide 894 of the NOS3 gene (G894T) results in the substitution at position 298 of the glutamic acid A2 polypeptide chain (glutamic acidA8) which affects the stability of the eNOS enzyme. The isoform of the enzyme containing asparaginic acid in the polypeptide chain (298Asp) breaks down faster than the enzyme containing glutamic acid (298Glu). Numerous studies have identified the role of this polymorphism in causing atherosclerosis and thrombosis and as a risk factor for myocardial infarction. The G894T mutation of the NOS3 gene increases the risk of premature myocardial infarction. In addition, it was found that G894T polymorphism is a risk factor for the occurrence of preeclampsia in 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 and equalize low blood glucose levels in hypoglycemia .



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