Folate Metabolism
A test for detecting gene polymorphisms associated with a risk of developing folate cycle disorders. The reagent kit is designed to detect polymorphisms of MTHFR (methylenetetetrahydrofolate reductase, 677 C>T and 1298 A>C), MTR (methionine synthase, 2756 A>G), and MTRR (methionine synthase reductase, 66 A>G) genes.
Folate Metabolism
The folate cycle is a critical metabolic pathway involved in nucleotide synthesis and DNA methylation. Disruptions in this cycle can lead to grave consequences, including an increased risk of cardiovascular disease, neurological disorders, pregnancy complications, and fetal neural tube defects. The study of genetic polymorphisms affecting folate metabolism allows doctors to assess individual risks and take action to correct metabolic abnormalities.
The most prevalent folate cycle gene polymorphisms are the following:
- MTHFR (methylenetetetrahydrofolate reductase, 677 C>T and 1298 A>C);
- MTR (methionine synthase, 2756 A>G);
- MTRR (methionine synthase reductase, 66 A>G).
Polymorphisms in the MTHFR (677 C>T and 1298 A>C), MTR (2756 A>G), and MTRR (66 A>G) genes can lead to elevated plasma homocysteine levels. Hyperhomocysteinemia constitutes a substantial risk for cardiovascular disease, including atherosclerosis, coronary heart disease, and stroke. Elevated homocysteine levels contribute to endothelial dysfunction, oxidative stress and inflammation, leading to the development of vascular pathologies.
MTHFR polymorphisms, particularly, 677 C>T, are associated with an increased risk of pregnancy complications such as preeclampsia, preterm labor, and placental insufficiency. In addition, these polymorphisms may increase the risk of neural tube defects in newborns. Disruption of maternal folate metabolism affects DNA methylation and nucleotide synthesis which are critical for normal fetal development.
Folate cycle disturbances can also lead to the development of megaloblastic anemia, caused by a lack of DNA synthesis in erythropoietic cells of the bone marrow. Polymorphisms of the MTHFR, MTR and MTRR genes may reduce the availability of active folate forms necessary for normal cell division.
Indications for testing
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Pregnancy planning -
Elevated homocysteine levels -
Family history of cardiovascular and neurological diseases -
Recurrent pregnancy loss -
Anemia of unclear etiology -
Determination of cardiovascular disease risk -
Poor nutritional status -
Chronic inflammatory bowel diseases
Folate Metabolism
Folate Metabolism REAL-TIME PCR Genotyping Kit is intended for detection and allelic discrimination of genetic polymorphisms associated with inherited risk of folate cycle impairment.
Sample: peripheral blood
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