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Plasminogen Activator Inhibitor 1 (PAI-1), Mutation 844 G>A

This assay detects the presence of the 844 G> A mutation in the PAI-1 gene.

Plasminogen activator inhibitor-1 (PAI-1) is a key component in regulating the fibrinolytic mechanism. It binds to the tissue plasminogen activator (tPA) and inhibits the conversion of plasminogen to plasmin, which results in a decrease in fibrinolysis (ie blood clotting). PAI-1 is encoded by the SERPINE1 gene located on chromosome 7. Elevated levels of PAI-1 are a risk factor for thrombosis and atherosclerosis. The other form of PAI, PAI-2, is secreted by the placenta only and is present in significant amounts only during pregnancy. However, the major inhibitor of plasminogen activators is PAI-1.

This mutation in the SERPINE1 gene results in elevated plasma PAI-1 levels, which have been associated with an increased risk of coronary heart disease. In addition, elevated levels of PAI-1 are a common feature of metabolic syndrome and predispose to diabetes mellitus. Homozygosity in this mutation, combined with the 4G allele of PAI-1, increases the risk of developing polycystic ovary syndrome by 2.5 times. Homozygotes and heterozygotes of this mutation, in combination with the 4G allele of PAI-1, also have an increased risk of coronary heart disease.

 

 

Important Note

Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. Correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".

Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.

At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.

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