MTHFR (Methylenetetrahydrofolate Reductase) is labeled for both an enzyme and a gene. A healthy functioning MTHFR gene produces a functioning MTHFR enzyme that converts folic acid to 5-MTHF and helps regulate homocysteine levels. If the MTHFR gene is mutated, the enzyme cannot be produced correctly and folate does not convert to 5-MTHF which is it’s active form. If you have the MTHFR gene mutation, you may not be absorbing enough folate and B-12 which can lead to a vast list of disorders including autism, addiction, Down’s syndrome, miscarriages, pulmonary embolism, depression, anxiety, schizophrenia, fibromyalgia, chronic fatigue, chemical sensitivity, Parkinson’s, IBS, pre-eclampsia, stroke, spina bifica, bipoloar disorder, dementia, cancer, blood clots, cognitive development, migraines, low HDL, high homocysteine, atheroslcerosis, type 1 diabetes, epilepsy, Alzheimer’s, multiple sclerosis, high blood pressure, heart attack, heart murmurs, tongue tie and methotrexate toxicity.
I have taken the test. What do the results mean?
The MTHFR gene comes from the mother and the second copy comes from the father. Currently there are 4578 research articles on MTHFR and their connections to various disorders.The most common ones that doctors will look for is C677T, A1298C, P39P and R594Q.
Some people are homozygous.
Example: Homozygous C677T means they got a copy of C677T from each parent.
Possible C677 Connections: Hypertension, Down’s syndrome, breast cancer, colon cancer, increased homocysteine, epilepsy, infertility, peripheral arterial disease, depression, anxiety and migraines.
Some people are heterozygous.
Example: One copy of A1298C from one parent.
Possible A1298C Connections: ADHD, infertility, rheumatoid arthritis, Turner syndrome and elevated homocysteine.
Some people are compound heterozygous.
Example: One copy of A1298C from one parent and one copy of C677T from another parent.
Possible Compound Heterozygous Connections: Congenital heart disease, deep venous thrombosis, meningioma, glioma and post-menopausal breast cancer.
The gene mutation has been identified. Now what?
Talk to your nutritionist or health care practitioner on how to choose the right Methylfolate and Methylcobalamin if homocysteine is elevated, or other symptoms persist. Other genes should be considered, and dosages should start small.
According to Dr. Ben Lynch, these are the drugs to avoid if you have an MTHFR mutation:
- Antacids (deplete B12)
- Cholestyramine (deplete cobalamin and folate absorption) – common in gallbladder issues during pregnancy!
- Colestipol (decrease cobalamin and folate absorption)
- Methotrexate (inhibits DHFR)
- Nitrous Oxide (inactivates MS)
- Niacin (depletes SAMe and limits pyridoxal kinase = active B6) useful during times of over-methylation
- Theophylline (limits pyridoxal kinase = active B6)
- Cyclosporin A (decreases renal function and increases Hcy) Metformin (decreases cobalamin absorption)
- Phenytoin (folate antagonist)
- Carbamazepine (folate antagonist)
- Oral Contraceptives (deplete folate)
- Antimalarials JPC-2056, Pyrimethamine, Proguanil (inhibits DHFR)
- Antibiotic Trimethoprim (inhibits DHFR)
- Bactrim (inhibits DHFR)
- Sulfasalazine (inhibits DHFR)
- Triamterene (inhibits DHFR)
Please go to www.nutritiongenome.com to find out the best way to nutritionally approach MTHFR and other SNPs by getting a full Nutrition Genome Report.