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MTHFR Gene, A1298C Polymorphism

Molecular screening for the A1298C mutation of the 5,10-methyltetrahydrofolate reductase (MTHFR) gene is performed to assess the risk of thrombosis in asymptomatic patients with a severe familial history or in patients who have already had thrombosis.

5,10-Methyltetrahydrofolate reductase (MTHFR) is an enzyme that acts to convert 5,10-methyl-tetrahydrofolic acid to 5-methyltetrahydrofolic acid, a critical step in the biochemical pathway of homocysteine metabolism. MTHFR gene mutations can cause elevated levels of homocysteine ​​in the blood, which is a risk factor for venous and arterial thrombosis. The most common mutation in the MTHFR gene is the substitution of Cystine by Thymine at nucleotide 677 (C677T), which leads to the creation of a defective enzyme due to the change of the amino acid alanine from valine to the polypeptide chain. The second most common mutation of the MTHFR gene is the replacement of Adenine by Cytosine at nucleotide 1298 (A1298C), which leads to the replacement of glutamic acid by alanine at position 429 of the polypeptide chain and which also results in reduced enzyme activity. Polymorphisms in the MTHFR gene have been associated with vascular disease, pregnancy complications (such as recurrent miscarriages), fetal developmental malformations, and possibly Alzheimer's disease and dementia. Women who are heterozygous carriers for both mutations in MTHFR are at increased risk of developing pregnancy complications.

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).



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. The 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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