Here is the majority of the information available in one document. I hope if you have been recently diagnosed this proves to be an effective aide to provide your health care provider(s).
MTHFR Gene Mutation
What is it?
The gene MTHFR (Methylenetetrahydofolate Reductase) encodes the protein MTHFR. Its job is to convert one form of folate (5,10-Methylenetetrahydofolate) to another form of folate (5-Methyltetrahydrofolate). 5-Methyltetrahydrofolate is used to convert Homocysteine (a "bad" amino acid) to Methionine (a "good" amino acid). Therefore, if MTHFR is not doing its job as well, homocysteine will not be converted to Methionine and will be elevated in plasma. Elevated Homocysteine has been associated with a variety of multi-factorial diseases.
Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts Homocysteine to an essential amino acid (Methionine). When the genes are mutated you may be lacking this enzyme. Your Homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations, because Homocysteine levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).
What Type Do I Have?
With MTHFR, there are 24 known mutations but the two most common different genes are identified here for this mutation, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous." The MTHFR gene mutation has varying degrees of possible implications. The order of potential (again, note that each person's severity can be different) severity from most to least is:
1. C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)
It is also important to note that each of these common mutations can also be coupled with another mutation called Factor V Leiden which is known also as Antiphospholipid Syndrome. This mutation coupled with C677T is known to cause miscarriage up to 50% of the time. Also, of the two common mutations A1298C is the most commonly occurring in the population but C677T is the more problematic of the two with respect to health (vascular) and loss.
The MTHFR mutation is fairly common in the general population. Approximately 44% of the population is heterozygous and another approximate 12% are homozygous for the MTHFR mutation. Even though MTHFR mutations can affect each person very differently, compound heterozygous and homozygous MTHFR have the highest incidences of being linked to implantation failure, late term miscarriages, specific birth defects and overall vascular health. Whichever type of MTHFR you have, it should not be discounted, particularly if there is a personal or family history of any such incidences.
What Are the Implications?
Any and all of the mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause medical complications. Many other MTHFR patients have normal homocysteine levels; yet have had implantation problems, m/c(s), and/or stillbirth(s) due to clotting problems. So it is important to find out your Homocysteine levels (although again, normal doesn't necessarily mean all is well AND on any given day your Homocysteine levels can change making testing for this problematic). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.
Research shows that high homocysteine levels and/or those with the mutation show a higher propensity for thrombosis (blood clots), arteriosclerosis (hardening of arteries), Alzheimer's, stroke, heart attack, Fibromyalgia, migraines (especially with "Aura" migraines), osteoporotic fractures, bone marrow disorders and for those of child bearing years, it has found to be connected to higher incidences of Down syndrome, Spina bifida, other Neural Tube Defects, Trisomy, miscarriage, stillbirth, implantation failure, placental abruption, preeclampsia, higher incidences of autism, amongst others. The mutation C677T is specifically documented to be linked to these. Additionally, if you test positive consider having your parents, siblings, and any children tested, as well. There are a few positives to this disorder. Because folate is necessary for cellular division, there is support that shows having this disorder can actually help keep certain types of cancer cells from multiplying as rapidly, so there are some benefits from having this mutation.
Many doctors prescribe Folgard or other high level Folic Acid (PregVit 5 in Canada) supplements, which is a prescription vitamin supplement containing high levels of folic acid, B12 and B6. Because of the mutation, absorption of Folic Acid is hindered and anyone with MTHFR will require 200% more Folic Acid then a typical person. These vitamins are what the body essentially needs to convert Homocysteine to Methionine. To put this into perspective, the average multivitamin contains 400 mcgs , most prenatals have 800mcgs of Folic Acid. Any person with a MTHFR mutation are recommended taking 5 mgs. of Folic Acid/B vitamins (12 times the average multi-vitamin and 6 times more than prenatals). It is also recommended to begin taking a low dose (LD) aspirin (81 mgs) once a day, every day, for the rest of your life.
For those undergoing fertility treatments, often times the treatment includes Lovenox (low molecular weight heparin) or Heparin (both are anti-coagulants) during the cycle. If you have a history of implantation failure or early miscarriage, it is becoming more acceptable to use the protocol established by the well-respected Reproductive Immunologist Dr. Beers by beginning Lovenox (40mg/once a day) on cycle day 6 and continuing throughout the cycle. If pregnancy is confirmed, this dosage is likely increased (Typically up to 40mg/twice a day, but potentially higher doses are prescribed dependent upon blood work results since homocysteine levels tend to increase with pregnancy) and usage continues throughout your pregnancy. Approximately two to four weeks prior to birth, the patient is converted to Heparin and continues to take an anti-coagulant for another 6 weeks postpartum (typically switched back to Lovenox). During that time, you will typically be directed to take additional Calcium and Vitamin D, as anti-coagulants can cause bone loss (Heparin more so than Lovenox). Some doctors will recommend a bone scan after use is discontinued to ensure there are no bone density issues. While being treated with an anti-coagulant, you may be asked to discontinue taking the 81 mg. baby aspirin since the anti-coagulants will replace the need for the thinning property of the LD aspirin. The FDA has placed Lovenox as a category B. Lovenox is not expected to be harmful to an unborn baby. It is not known whether Lovenox passes into breast milk or if it could harm a nursing baby. Do not use Lovenox without telling your doctor if you are breast-feeding a baby. However, many doctors believe it is fine to breastfeed for the 6 weeks postpartum while still receiving Lovenox.
Note: This is not a replacement for physician related advice or for seeing a specialist educated on/about MTHFR mutations.
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Children - Special Needs Community Leader;
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