MTHFR Gene Mutation

So here I am a week after losing the one thing I so desperately wanted to give to my husband. I thought about giving up. I quickly thought about giving up. Are we suppose to adopt? Not have biological children? Should we quit while we are down....Are we going to be alone...

Why am I always trying to figure God out. As if I could ever...

Yet I do. And I never can. Maybe I like the challenge. Or maybe I hate not being in control...

So in my frantic, how do I fix this mode, I quickly decided I would not give up so easily.I remembered something the Ultrasound tech said to us right after delivering the news that she doesn't see a heartbeat. " You should really check to see if you have a thrombophilia disorder. I have seen it in alot of women lately and it can cause clotting in the umbilical chord which leads to miscarriage" . At the time I heard her but it was a blur. All I could focus on was the pregnancy bag I was given with all my pregnancy goodies, magazines, prenatals. Everything I would now not need. I remember answering her with a whisper "You can keep the bag" and my husband quickly escorted my tear streaked face right through the seats of the happily pregnant women scattered all around in the waiting room.

God help me.

I called the doctor and insisted that this was not just a "natural thing that sometimes happens" as we were told the week before. I asked if we could do a blood panel for thrombophelia. He told me this was extremely rare and unnecessary but I persisted.

A week later I was diagnosed with the MTHFR gene mutation. My mutation was listed as Compound Heterozygous.My Anti-Thrombin, Cardiolipin, Lupus, Plasminogen Activator Inhibitor, Factor V Leiden, and Protein C&S all came back normal.

My homocysteine level was within normal range but on the higher end.

I have one copy of the C677T gene mutation and one copy of the A1298C gene mutation. Compound Heterozygous inhibits your body’s ability to properly metabolize folic acid, and is an inherited clotting disorder . Compound means I have one copy of the mutations from each parent (funny neither one of them even hear of this mutation before, much less were aware they carried it).Sooo,  with all that being said...It took me about 6 months to get my diagnosis accurate and find the right combination of vitamins and baby aspirin. My biggest inspiration was Dr. Ben Lynch who actually studies this gene mutation for a living. Its what he specializes in and has a very clear understanding of what is needed for those of us with this genetic mutation. He is really great about responding to questions on his website as well as his facebook page! And he's from the Northwest so that's a serious bonus...(Go Ducks!)

I have vowed to stay far away from folic acid in the synthetic form as it has caused me severe brain fog, dizziness and lethargy. I have also vowed to steer clear of all food and medications containing any heavy metals or sulfates as my body cannot break them down properly.

I had to do the research and figure out what worked for me and my body as well as what worked with compound heterozygous. You will find that most doctors, unless MTHFR is their specialty, will not know the proper way to treat this genetic mutation. They will try to prescribe you folic acid and tell you recurrent miscarriages have nothing to do with your having the MTHFR mutation. I am not a doctor, but I disagree. And so do a lot of other woman out there who have suffered these losses only to find out that folic acid is highly lethal to their body and blood clotting , which can cause miscarriage, is highly likely in this genetic mutation.

For example,  My obgyn insisted that a low dose aspirin was not necessary yet my fertility specialist supported the low dose baby aspirin, especially with a history of miscarriages. Who's right?

Because of my personal research, as well as my study on Dr. Lynch's site,  I will be taking 81mg aspirin daily for the rest of my life as a preventative method.

 I have also requested and been prescribed a special prescription prenatal vitamin called Neevo DHA, (always good to take while preparing for pregnancy), one that none of my doctors had even heard of,  which is only one of very few prenatals that contain the metabalized form of folate (5MHTR). I am also taking Homocystex, which is a combination of  Vitamin B6 (from 41 mg pyridoxal 5'-phosphate) 25 mg, Folate (as Metafolin L-5-methyltetrahydrofolate) 800 mcg, Vitamin B12 (as methylcobalamin 1000 mcg.) which I purchased from seekinghealth.com because people like us with this genetic mutation, need 3-4 times the amount of folate that the average person needs.

I wrote about this issue for people who may be going through the same thing. If you are a woman who has had unexplained, recurrent miscarriages or find yourself with chronic fatigue, I would highly recommend a blood panel which includes this MTHFR mutation. 


More about MTHFR if your intersted....

MTHFR stands for the methylenetetrahydrofolate reductase gene (methyl-ene-tetra-hydro-folate-reductase).

The MTHFR gene is responsible for making a functional MTHFR enzyme. If the MTHFR gene is slightly altered (mutated), the MTHFR enzyme’s shape becomes distorted.

And this is just a straight copy and paste from stopthethyroidmadness.com which gives my favorite easy explanation of the mutation and how it affect us .

When it’s all working right, the MTHFR gene begins a multi-step chemical breakdown process, aka methylation, which in simplified terms, is like this:

The MTHFR gene produces the MTHFR enzyme.

The MTHFR enzyme works with the folate vitamins (B9, folic acid), breaking it down from 5,10-methylenetetrahydrofolate to 
5-methyltetrahydrofolate. 5-methyltetrahydrofolate helps convert the amino acid homocysteine down to another essential amino acid, methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats. Methionine helps with depression and even inflammation. It also helps convert estradiol (E2) into estriol (E3)!
Methionine is converted in your liver into SAM-e 
(s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce then breakdown of your brain chemicals serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells. i.e. a proper methylation pathway like the above is going to mean you will have a better chance in eliminating toxins and heavy metals, which can reduce your risk for cancer and other health issues, and put less stress on your adrenals.
What a defective (mutated) MTHFR gene does to you
It produces a defective MTHFR enzyme of different varieties i.e. it functions less than optimally, such as performing at only 40% of its capacity, or 70% of its capacity. It can mean you won’t break down toxins or heavy metals well.

The defective enzyme doesn’t break down folate vitamins properly (of which folic acid is the precursor to), which can cause high homocysteine, which can increase your risk of coronary heart disease (arteriosclerotic vascular disease or venous thrombosis), and related heart and BP conditions, as well as increasing your risk for dementia.

Homocysteine is poorly converted to glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to stress and toxin buildup.

Homocysteine is poorly converted to methionine, and less methionine can raise your risk of arteriosclerosis, fatty liver degenerative disease, anemia (see Wiki), increased inflammation, increased free radical damage… and produce less SAM-e. Less SAM-e can increase depression and more broadly, an MTHFR defect can increase your risk of a variety of cancers (including breast and prostate cancer), stroke, heart problems, congenital defects, depression, IBS (irritable bowel syndrome), miscarriages, migraines, chemical sensitivities and many conditions.

You can find yourself with high folate or high B12. i.e. your body will have problems converting inactive forms of folate and B12 to the active forms. So the inactive folate or B12 will simply build up in your serum, also inhibiting the active forms. Most serum folate tests are actually measuring folic acid, which needed to be converted to methylfolate to be used metabolically.

You may find yourself with high mercury, or high copper, or high other heavy metals….though not always. High copper can cause low iron levels. The journal Molecular Psychiatry states that “Schizophrenia-like syndromes, bipolar disorder, Parkinson’s disease, Alzheimer’s disease and vascular dementia have all been associated with one or more mutations of the MTHFR gene”. (2006;11, 352–360)

If the MTHFR gene is malfunctioning, homocysteine can build up and cause problems, both in the cardiovascular system, but also with pregnancy. At this time, we’ll confine this discussion to the impact on pregnancy. 

Some MTHFR mutations are more serious than others as far as their ability to cause problems during pregnancy. Specifically, women who have multiple pregnancy losses are more likely to have a MTHFR gene mutation.

The association of MTHFR and recurrent pregnancy loss is under great debate. Some clinicians and researchers feel that the mutations can cause blood clots between the developing placenta and uterine wall, thus preventing transport of vital nutrition to the developing fetus. This usually occurs early in pregnancy when the embryo or fetus is most vulnerable.

I found an awesome website with a list of all things to avoid if you carry a MTHFR mutation.

Here is also a long list of medication that raise homocystine levels, lower folic acid, or could kill a person with MTHFR because their body can’t process Nitrous Oxide. All of the following either contain metals, sulfates, OR will lower the folic acid levels or raise the homocystine levels, all of which are detrimental to someone with MTHFR.

Medications to avoid:
Antacids, Protein Pump Inhibitors and Histamine BlockersMany antacids contain aluminum. With the MTHFR gene mutation we have trouble clearing metals so aluminum is not a good thing to put in our bodies.
We also have trouble maintaining adequate levels of B12 (methylcobalamin not to be mistaken with cyanocobalamin). Aluminum can inhibit the absorption of B12.
Protein Pump Inhibitors decrease B12 and Folate (not to be mistaken with folic).
Histamine Blockers reduce the absorption of Folate and B12.

Antidepressants/SSRI’s
Signs of a Folate and B12 deficiency are sometimes anxiety and depression. If you know that you have an MTHFR gene mutation and suffer with anxiety and depression, shouldn’t you try B12 (methylcobalimin) and Folate? Also BH4 is doing wonders for people who have the MTHFR gene mutation, anxiety and depression. TMG also helps with this. No one should ever stop taking their medication without first consulting a physician.

Pancreatic enzymes
Here is the deal with pancreatic enzymes. You can have low production of pancretic enzymes due to lack of nutrition and what pancreatic enzymes you have in your system can go into override and be depleted due to lack of nutrition. Pancreatic enzymes are needed for the methylation process. Medications and poor diet contribute to this. MTHFR and b deficiency is a clear marker of hypomethylation.

Statins Drugs: Lipid lowering drugs (cholesterol meds) Reduce glutathione levels. Many people with MTHFR already have compromised glutathione levels. Low glutathione levels can cause high homocysteine levels which in turn can lead to a clotting event.

Statins (or HMG-CoA reductase inhibitors) are a class of drugs used to lower cholesterol levels by inhibiting the enzyme HMG-CoA reductase, which plays a central role in the production of cholesterol in the liver. Some drug names: atorvastatin (Lipitor and Torvast), fluvastatin (Lescol), lovastatin (Mevacor, Altocor, Altoprev), pitavastatin (Livalo, Pitava), pravastatin (Pravachol, Selektine, Lipostat), rosuvastatin (Crestor) and simvastatin (Zocor, Lipex).

Phenobarbitol
Interferes with absorption of Folate

Vaccinations
People with the MTHFR deficiency sometimes have problems clearing metals. There are many toxic preservatives in vaccinations. Thimerasol and aluminum are found in many vaccinations. They can cause serious problems to someone with an MTHFR gene mutation. Thimerasol (mercury) and aluminum are known to deplete b vitamins. A person with MTHFR has trouble clearing metals. Mercury and aluminum absorb what b vitamins are in the body.

Amalgam Fillings
Amalgam fillings are made up of the toxic metal mercury. Someone with the MTHFR gene mutation who clearly cannot dump metals can have many problems with amalgam fillings. Anytime you chew food or put hot liquid into your mouth, a toxic mercury gas is let off in your mouth. Guess what is right above your mouth? YOUR BRAIN. Mercury depletes your B vitamins.

Fluoride
Fluoride has been linked to lowering glutathione. This is not the use of toothpastes with fluoride, this is using a fluoride supplements.

Acetaminophen
Acetaminophen and glutathione deficiency
Many people with MTHFR have lower than normal glutathione levels.
B12 (methylcobalamin) and NAC (N-acetylcysteine) help to elevate glutathione. NAC does have some side effects. People with leaky gut syndrome, asthma and pulmonary hypertension should not use NAC.
In my opinion acetaminophen should be avoided by people who have low glutathione and the MTHFR gene mutation. There are studies out that show acetaminophen lowers your glutathione by 84%.

Diuretics
Diuretics have been linked to causing Thiamine (B1) deficiency.

Antifungals 
Antifungals such as grisefulvin and fluconazole are hard on the liver. Glutathione is needed to clear out toxins and to maintain a healthy liver. With MTHFR and low glutathione it is best to avoid these drugs. Oil of oregano, coconut milk and a low carb diet are healthier alternatives that help keep yeast and candida away.

Fish Oil Use Flax Seed as substitute!
Mercury tends to suck up our methylcobalamin (B12).
It is best to try other alternatives such as flaxseed oil and nattokinase (should not be taken with coumadin). Remember that many people with an MTHFR gene defect have problems clearing heavy metals and there is only one other heavy metal deadlier than mercury. It is plutonium.

Asthma medications
People with MTHFR sometimes need asthma medications. B12 (methylcobalamin) helps improve asthma symptoms. B12 is known as an antisulfite agent. Sulfites can cause asthma in people with MTHFR gene mutations because they have trouble converting sulfites. B6 promotes ATP and helps relax bronchial tissue.
Theophylline, albuterol and prednisone have been found to make us B6 deficient.

Anticonvulsants
Can cause B12 and B6 deficiency which can lead to anemia an fatigue. It can also elevate homocysteine and lead to stroke.

Cyclosporine
Cyclosporine and the MTHFR gene mutation has been found to elevate cardiovascular risk factors in the C677T gene mutation.

Methotrexate
Methotrexate is used to treat psoriasis and rheumatoid arthritis. It is known to cause Folate deficiency.

Neuroleptics
Neuroleptics can cause B12 deficiency and neuroleptic malignant syndrome.

Colchine
Reduces the absorption of B12.

Oral diabetic medicationsMetaformin
Causes malabsorption of B12, Folate and possibly B1 (thiamine)

EthionamideInhibits B6 (P5P)


Cycloserine
Inhibits the absorption of Folate and inactivates B6.


Aminosalicylic acid
Reduces the absorption of Folate and B12 (methylcobalamin)


AntibioticsCephalosporins, Fluorquinolones, Isoniazid, Macrolides, Penicillan, Sulfonamides and Tetracyclines
Destroy intestinal gut flora
B1, B2, B5, B6, Folate and B12 all have decreased absorption.
People with MTHFR sometimes have problems clearing sulfates. Molybdenum seems to help people with MTHFR clear sulfates and sulfites as well.
Synthetic B vitaminsMany people I speak with who have MTHFR have problems with synthetic b vitamins. It actually jams up the active b vitamins from doing their job. I avoid vitamins with synthetic b’s and foods fortified with synthetic b vitamins.
Synthetic B6 contains formaldahyde
Synthetic Folate known as Folic contains coal tar residue
Synthetic B12 known as cyanocobalamin contains cyanide phosphate 3′

These are not the active forms and with MTHFR you clearly need the active forms of b vitamins to manipulate this enzyme deficiency

Phenytoin and FosphenytoinDecreases the absorption of Folate and B12

PhenobarbitolInterferes with absorption of Folate

Cobalt
Can interfere with the absorption of B12

ChlorpromazineInterferes with B2-riboflavin

MethylprednisoneDecreases Folate
CholestyramineDecreases the absorption of B12 and Folate.
Nitrous Oxide
Will cause B12 (methylcobalmin) deficiency in people with an MTHFR gene mutation that can possibly be severe. Prior to surgery and/or a dental visit it is important to let your doctor and anesthesiologist know that you cannot have nitrous oxide. Nitrous oxide can poduce hyperhomocystenemia and high homocysteine which in turn can cause a life threatning clotting event.

Levodopa
Levodopa is used to treat Parkinson’s.
It also decreases levels of B12 (methylcobalamin) and Folate.
This can cause polyneuropathy.

AntihypertensivesAntihypertension drugs interact with NAC (N-acetylcyteine). NAC helps produce glutathione. So if you are taking an antihypertensive drug, it is best not to put NAC in your MTHFR protocol.
Hydralazine increases the excretion of B6.
Oral contraceptivesOral contraceptives have been found to drop folate by 40%. A person with the MTHFR gene mutation already has trouble keeping adequate amounts of folate in their body. Low levels of folate can elevate homocysteine and lead to a clotting event.