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MTHFR Gene, Molecular Detection of C677T Mutation

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Molecular screening for the C677T mutation of the 5,10-methyltetrahydrofolic acid 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 tumors.

Failure of the 5,10-methyltetrahydrofolic acid (MTHFR) reductase or reductase enzyme is an inherited autosomal recessive disorder and is the most common genetic damage to folic acid metabolism. This polymorphism of the MTHFR gene is the result of a mutation in nucleotide 677, in which Cytosine (C) is replaced by Thymine (T). This mutation results in the replacement of the amino acid Alanine (Ala) at position 677 of the polypeptide chain with Valine (Val). Homozygosity or heterozygosity for this mutation of the MTHFR gene results in decreased enzyme activity and therefore reduced synthesis of 5-methyl-tetrahydrofolic acid, the primary donor of methyl radicals during homocysteine ​​conversion which eventually causes hyper-homocysteinaemia (increased homocysteine ​​in the blood), homocystinuria (increased homocysteine ​​in the urine), and hypo-methionineemia (decreased methionine in the blood). Elevated plasma homocysteine ​​levels are a risk factor for venous and arterial thrombosis as well as for cardiovascular and neurological diseases. Hyper-homocysteinaemia has been reported in women who have miscarriages, and MTHFR gene mutations may be a risk factor for unexplained miscarriages. The underlying diseases of the mother's vessels increase the risk of preeclampsia, one of the most common and serious complications of pregnancy. Mutation of the MTHFR gene increases the risk associated with factor V Leiden mutation for deep vein thrombosis.

There are individuals with two copies of the normal MTHFR gene (677CC, normal homozygotes), homozygotes with two mutant MTHFR genes (677TT) and moderate lack of MTHFR enzyme activity and heterozygous MTHFR heterozygous 67 from the normal gene reaches to cover almost the reduced activity of the enzyme derived from the other mutated gene.

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 endometrial fetal 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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