From the Guidelines
Most people with MTHFR mutations do not require special treatment unless they have elevated homocysteine levels or specific health conditions. The presence of an MTHFR mutation can affect the body's ability to process folate and homocysteine, but current medical consensus suggests that most MTHFR mutations do not significantly impact health for most people 1.
Implications of MTHFR Mutation
The MTHFR mutation affects an enzyme that converts folate to its active form, which is necessary for DNA synthesis and repair, neurotransmitter production, and homocysteine metabolism. Elevated levels of plasma homocysteine are associated with a 2- to 3-fold increased risk for atherosclerotic vascular disease, including stroke 1. However, the relationship between homocysteine levels and carotid IMT was eliminated after adjustment for other cardiovascular risk factors or renal function 1.
Treatment and Recommendations
If you have an MTHFR mutation, you may benefit from taking methylfolate (400-1000 mcg daily) instead of regular folic acid, as it's already in the active form your body can use. Some healthcare providers also recommend vitamin B12 (methylcobalamin form, 500-1000 mcg daily) and vitamin B6 (25-50 mg daily) to support the methylation pathway 1. Homocysteine testing is more clinically relevant than the mutation itself, and treatment should be considered when homocysteinaemia is present 1.
Key Points to Consider
- MTHFR mutations do not significantly impact health for most people
- Elevated homocysteine levels are associated with increased risk of atherosclerotic vascular disease
- Homocysteine testing is more clinically relevant than the mutation itself
- Treatment with methylfolate, vitamin B12, and vitamin B6 may be beneficial for some individuals with MTHFR mutations and elevated homocysteine levels.
From the Research
Implications of MTHFR Mutation
The implications of a Methylenetetrahydrofolate Reductase (MTHFR) mutation are varied and can have significant effects on an individual's health. Some of the key implications include:
- Increased risk of hyperhomocysteinaemia, which can lead to vascular disease and other health problems 2
- Elevated homocysteine levels, which can be reduced with supplementation of folate, B6, and B12 2, 3, 4
- Increased risk of recurrent pregnancy loss, which can be mitigated with supplementation of folic acid, vitamins B6 and B12 3
- Potential risk factor for offspring with limb defects, particularly in mothers who are homozygous for the C677T MTHFR mutation 5
- Increased risk of cardiovascular disease, including atherosclerosis, myocardial infarction, stroke, and coronary artery disease 6
Health Effects
The health effects of an MTHFR mutation can be significant and far-reaching. Some of the key health effects include:
- Hyperhomocysteinaemia, which can lead to vascular disease and other health problems 2
- Recurrent pregnancy loss, which can be mitigated with supplementation of folic acid, vitamins B6 and B12 3
- Limb defects in offspring, particularly in mothers who are homozygous for the C677T MTHFR mutation 5
- Cardiovascular disease, including atherosclerosis, myocardial infarction, stroke, and coronary artery disease 6
- Increased risk of thrombotic episodes and coronary artery disease 6
Supplementation and Treatment
Supplementation and treatment options are available to mitigate the effects of an MTHFR mutation. Some of the key options include:
- Supplementation of folate, B6, and B12 to reduce homocysteine levels 2, 3, 4
- Folic acid supplementation to reduce the risk of neural tube defects and limb defects in offspring 2, 5
- L-methylfolate supplementation to reduce homocysteine levels and improve pregnancy outcomes 3, 4
- Folinic acid supplementation to reduce homocysteine levels and improve health outcomes 4