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Target intelligence / Profile preview
Methylenetetrahydrofolate reductase (MTHFR)
- Target
- MTHFR
- Molecular classification
- Enzyme, Reductase, Flavoprotein
01
Overview
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a crucial step in folate metabolism and the methionine cycle. This reaction is essential for DNA synthesis, methylation reactions, and regulating homocysteine levels. MTHFR mutations can lead to hyperhomocysteinemia and are associated with increased risk of cardiovascular disease and neural tube defects.
- Other names
- 5,10-methylenetetrahydrofolate reductaseMethylene-THF reductaseNAD(P)H dehydrogenase (FAD-dependent)
02
Mechanism of action
Inhibitors of MTHFR are being researched, but no clinically approved drugs directly target MTHFR currently. The mechanism would involve blocking the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate.
03
Biological functions
Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolateFolate metabolismAmino acid processingOne-carbon metabolismDNA synthesisMethylation reactionsRegulation of methionine and homocysteine concentrations
04
Disease associations
HyperhomocysteinemiaHomocystinuriaCardiovascular disease (risk factor)Neural tube defects (e.g., spina bifida)
05
Safety considerations
MTHFR mutations can lead to hyperhomocysteinemia, a risk factor for cardiovascular disease, thrombosis, and pregnancy complications.Lowered enzyme activity increases risk of neural tube defects in fetuses of mothers with MTHFR mutations.The clinical significance of specific MTHFR variants is still debated, with some claims being overstated.
06
Biomarkers
MTHFR gene polymorphisms (e.g., C677T, A1298C) associated with altered enzyme activity and disease riskHomocysteine levels (elevated levels indicate potential MTHFR deficiency or dysfunction)
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