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Tag: folate metabolism

Determination and Interpretation of MTHFR Gene Mutations in Gynecology and Internal Medicine

This expert consensus article by the Hemostasis Group of the Polish Society of Hematologists and Transfusiologists addresses the clinical significance of two common MTHFR gene polymorphisms—c.665C>T (formerly 677C>T) and c.1286A>C (formerly 1298A>C). These polymorphisms can reduce MTHFR enzyme activity, leading to elevated homocysteine levels, particularly in individuals with folate deficiency.

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June 26, 2025 No Comments

Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene are common in US Caucasian and Hispanic American populations

This study examined the prevalence of two common genetic polymorphisms, C677T and A1298C, in the methylenetetrahydrofolate reductase (MTHFR) gene among Caucasian and Hispanic populations in the U.S. The study found high frequencies of these polymorphisms, with notable homozygosity for the C677T SNP (16% in Caucasians, 10% in Hispanics). These genetic

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June 26, 2025 No Comments

The C677T MTHFR genotypes influence the efficacy of B9 and B12 vitamins supplementation to lowering plasma total homocysteine in hemodialysis

This study investigated the effect of folic acid (B9) and vitamin B12 supplementation on lowering plasma total homocysteine (tHcy) levels in hemodialysis (HD) patients, specifically focusing on the impact of MTHFR (C677T) genotypes. It involved 132 HD patients who were randomized to receive B9, B12, or a combination of both

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June 26, 2025 No Comments

Association between MTHFR (677C>T and 1298A>C) polymorphisms and psychiatric disorder: A meta-analysis

This meta-analysis examined the association between MTHFR 677C>T and 1298A>C polymorphisms and psychiatric disorders like ADHD, bipolar disorder, and schizophrenia. The study found a weak but significant association between these genetic variations and the disorders, though the strength of the association varied across studies and populations. The findings suggest a

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June 26, 2025 No Comments

Biological and clinical implications of the MTHFR C677T polymorphism

This review article discusses the MTHFR C677T polymorphism and its impact on homocysteine levels, folate metabolism, and associated health risks. The TT genotype is linked to elevated homocysteine, which increases the risk of neural tube defects, colorectal cancer, and adverse reactions to antifolate drugs. The study also notes that the

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June 26, 2025 No Comments

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases

This review explores the MTHFR C677T polymorphism, a genetic variation that affects folate metabolism and leads to elevated homocysteine levels, which are associated with an increased risk of cardiovascular diseases, neurological disorders, diabetes, and other health conditions. The article discusses the need for genetic testing and the use of folic

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June 26, 2025 No Comments

Methylenetetrahydrofolate reductase polymorphism determines the plasma homocysteine-lowering effect of large-dose folic acid supplementation in patients with cardiovascular disease

This study explored the effect of the methylenetetrahydrofolate reductase (MTHFR) 677C–>T polymorphism on plasma homocysteine levels in response to folic acid supplementation in patients with cardiovascular disease. A total of 23 patients, aged 44-88, were supplemented with 5 mg of folic acid daily for 8 weeks. Plasma homocysteine levels decreased

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June 26, 2025 No Comments

Methylenetetrahydrofolate reductase: biochemical characterization and medical significance

The article discusses the role of methylenetetrahydrofolate reductase (MTHFR) in folate metabolism and homocysteine regulation, highlighting the C677T polymorphism and its association with various diseases, including cardiovascular disease, Alzheimer’s, depression, and neural tube defects. The review explains how this genetic variant influences folate metabolism, affecting health outcomes, and emphasizes the

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June 26, 2025 No Comments

Polymorphisms of key enzymes in homocysteine metabolism affect diet responsiveness of plasma homocysteine in healthy women

This study examined the effect of genetic polymorphisms in enzymes involved in homocysteine metabolism (MTHFR, CBS, and MS) on plasma homocysteine responses to dietary folate in healthy women. Participants (n=37) underwent a crossover dietary intervention with low and high folate diets. Results showed that high folate intake significantly increased serum

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June 26, 2025 No Comments

Quantification of multi-pathway metabolites related to folate metabolism and application in natural population with MTHFR C677T polymorphism

This study analyzed the impact of the MTHFR C677T polymorphism on folate metabolism and its effects on health. Using liquid chromatography-tandem mass spectrometry (LC-MS/MS), the study identified changes in folate-related metabolites in individuals with this genetic variant, particularly in 5-methyltetrahydrofolate levels and metabolites involved in DNA synthesis. The findings highlight

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June 26, 2025 No Comments