What is the official name of the MTHFR gene?
The official name of this gene is “methylenetetrahydrofolate reductase (NAD(P)H).”
MTHFR is the gene’s official symbol.
What is the normal function of the MTHFR gene?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Defective MTHFR Gene Linked to Fertility and Pregnancy Struggles
What You Can Do if You Test Positive for MTHFR C677T
Although at first it feels quite scary and hopeless to be diagnosed with a genetic defect, this one is quite common. Fortunately there are things you can do at home to increase your chances of natural conception, carrying a healthy pregnancy to term, preventing postpartum depression and protecting your health overall, since MTHFR gene defect impacts many areas of health.
- Eat organic, this will help reduce overall toxic load.
- Avoid supplementing with synthetic folic acid, choose a whole food preconception multivitamin like Fertile Woman One Daily while trying to conceive and then switch to a whole food prenatal multivitamin like Baby and Me Multivitamin through pregnancy and breastfeeding. You may also want to ask your doctor about special prenatal vitamins that contain methylated folate or folinic acid.
- Eat a diet rich in naturally occurring folate, such as uncooked dark leafy green vegetables, lentils, beans, liver, and avocado.
- Take ONLY L-methylated folate, as the body will not absorb methylated folate. (Amazon.com is a great resource)
- Avoid processed foods that are fortified with synthetic folic acid (homozygous), or strictly limit them (heterozygous).
- Consider supplementing with carnitine, CoQ10 Ubiquinol, cod liver oil, probiotics and an antioxidant blend.
- At each meal, eat a variety of whole foods and be sure to include a protein.
- Make sure all the B vitamins you supplement are from a whole food source and provide the methylated form (active). For vitamin B6 this would be Pyridoxal 5-Phosphate or P5P; for Vitamin B12 this is methylcobalamin.
- Avoid regularly consuming both black and green tea, as they may inhibit folic acid absorption.
- Avoid antacids, these inhibit folic acid absorption as well.
- According to Dr. Ben Lynch, an expert on MTHFR gene mutation, it is best to avoid birth control use, as this can block folate absorption.
- For vegans, it is important to speak with your doctor about supplementing with the following, in addition to the above; methylcobalamin (active form of vitamin B12) and choline.
- Find a good OB/Gyn or midwife to work with that is well educated in MTHFR gene mutation if you plan on getting pregnant. This will help you to maintain the continued support you need through pregnancy and lactation.
“The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid.
We all have two copies of the MTHFR gene, one from each parent. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.
MTHFR deficiency, in the presence of elevated homocysteine levels, has been associated with a variety of health issues including an increased risk for venous thromboembolism (the formation of a blood clot in a vein), early onset cardiovascular disease, and adverse pregnancy outcome including fetal growth restriction, preeclampsia, miscarriage and placental abruption. However, these risks may not be increased in the presence of normal homocysteine levels. A blood test can be performed that measures plasma homocysteine levels.