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MTHFR Gene, Molecular Detection of A1298C Mutation

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Molecular screening for the A1298C mutation of the 5,10-methyl-tetrahydrofolic acid (MTHFR) reductase gene (MTHFR) 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-Methyltetrahydrofolic acid reductase or reductase (MTHFR) is an enzyme that acts to convert 5,10-methyltetrahydrofolate to 5-methyltetrahydrofolate, a critical step in the biochemical pathway of metabolism. MHTFR 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 alanine amino acid 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 peptide 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 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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