Selected Notes on MTHFR
UPDATE- Please visit the MTHFR website by clicking HERE. It will provide you with answers to your many questions about MTHFR.
MTHFR - stands for Methylenetetrahydrofolate Reductase (the enzyme is in a mutated form when talking about it in these specific cases) - Not that you`ll ever really need to know that.
Non mutated MTHFR is one of the leading regulatory enzymes of homocysteine metabolism. Homocysteine metabolism is an extremely important factor of our metabolic systems. This process touches many aspects of our general health and is therefore very important.
The MTHFR Mutation is a defective enzyme that hinders this process. The mutation of the MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine).
High levels of homocysteine can be attributed to many conditions such as:
The condition can lead to high rates of dementia /Alzheimer`s due to a decrease in vitamin B-12.
High homocysteinemia can lead to coronary artery disease, common carotid atherosclerosis other Vascular Diseases.
Complications in Pregnancy Due To Neural Tube Defects.
Non Insulin Dependant Diabetes
Early Pregnancy Loss
Spontaneous Abortion (Viable Fetus)
Placental Abruption, Low Birth Weight
MTHFR mutation can be homozygous (2 copies) or heterozygous (1 copy), with more people being heterozygous and carrying only one MTHFR mutated gene. Compound heterozygous (one copy of each mutation). Homozygous, of course, can cause more issues and become more serious.
It`s a fairly easy thing to test for by checking homocysteine levels in the blood.
Treatment consists of simple vitamin supplements --- FolaPro L-methyl tetrahydrofolate by Metagenics, OR, 5 tetrahydrofolate or methyl folate.
Longevity Plus, H.R. T. Plus with 5-tetrahydrofolate.
Life Extension, optimized folate (5-MTHF).
OR prescriptions like:
*Deplin/ 7.5 mg l-methylfolate
*Metanx-L methyl folate calcium (as Metafolin) 3 mg, Pyridoxal 5` phosphate 35 mg, methylcobalamin 2 mg.
Methyl B-12 injections
The vitamin supplementation is lifelong. After childbirth you may switch from prenatal to a women`s multivitamin.
See a specialist to discuss whether you are a candidate for Lovenox. Also, you may consider having a FULL antiphospholipid antibodies panel run.
Many MTHFR patients also have Antiphospholipid Syndrome. If you have both, you are a likely candidate for Lovenox (injections of low molecular weight heparin) throughout a pregnancy to prevent clotting.
In addition, lack of folic acid can cause clotting-related problems. Since the teeniest, tiniest blood vessels are in the uterus, a female can have microscopic clots that don`t harm them, but cut off the blood supply to the embryo/fetus. This can cause implantation problems, m/c, or even stillbirth. So properly treating your MTHFR is critical.
Please be sure to have your parents and siblings tested for MTHFR mutations as well. If positive, then they should discuss taking baby aspirin and additional Folgard as well (one Folgard per mutation.)
During pregnancy adding extra folic acid is suggested beyond the 800 mg.
Children will need a children`s multivitamin and later extra folic acid, too.
AVOID Laughing gas/Nitrous Oxide - Nitrous oxide uses up vitamin B-12 can cause severe problems or death in people with MTHFR Disorder.
AVOID Bactrim DS- In pregnancy it is associated with increased incidence of cleft lip. Otherwise the system is depleted of Vitamin B-12.
AVOID SamE, an over the counter product as this S-adenosyl-methionine can further inhibit MTHFR.
C77TT is associated with an increase risk of esophageal cancer.
MTHFR Disorder is associated with an increased risk for postmenopausal breast cancer, schizophrenia, anxiety, bipolar disorder, migraines, and strokes.
It effects of seizures and medications used to treat them.
There is a reduced risk of non-Hodgkins lymphoma and acute lymphocytic leukemia in adults.
Also known as: MTHFR DNA testing
Formal name: Methylenetetrahydrofolate Reductase Mutations, C677T and A1298C
Related tests: Homocysteine, Factor V Leiden Mutation and PT 20210 Mutation, Vitamin B12 & Folate, Cardiac Risk Assessment, Methotrexate
British Journal of Haematology Volume 105 Issue 1, Pages 98 - 1012009 Blackwell Publishing Ltd
The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss.
The prevalence of the MTHFR mutation in these women did not differ significantly from that in the control group of parous women with uneventful pregnancies, where 30/67 (44.8%) were heterozygous and 6/67 (9.0%) homozygous for the mutation (allele frequency 0.31; odds ratio for homozygous T/T 0.90, 95% CI 0.30.4). There was no association between the trimester of pregnancy loss and MTHFR genotype. We conclude that the C677T MTHFR mutation is not a risk predictor in women with a history of early or late recurrent miscarriage.
MTHFR disorder Most serious mutation to less serious:
C677T/C677T - Homozygous. Genetic counseling is recommended.
A1298C/A1298C - Homozygous. Genetic counseling is recommended.
C677T/A1298C- Compound heterozygous
Immunocompromised individuals are at increased risk for adverse effects.