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eNOS Gene, G894T Polymorphism

Includes 1 test
Blood, Other
3 Days
100€

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 polypeptide chain by aspartic acid (Glu298Asp) which affects the stability of the eNOS enzyme. The enzyme isoform containing aspartic acid in the polypeptide chain (298Asp) breaks down faster than the enzyme that contains 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 recurrent miscarriages (pregnancy loss) and complications of pregnancy such as severe preeclampsia, placental abruption, and fetal intrauterine 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 for other diseases, malignant neoplasms, prolonged immobility (such as long plane trips), use of certain medications (such as contraceptives, estrogens, tamoxifen, and raloxifene and certain drugs used for the treatment of infertility).

 

 

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Additional information
Tests includedIncludes 1 test
Sample Blood, Other
Procedure completion test
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