Saturday, 22 February 2014

The MTHFR Gene Mutation

So I went and had my blood test the other day to find out if I have this gene mutation and if so what types. Got to wait patiently now for my results… fingers crossed I'll have these back in the next few weeks.

In the meantime I have been doing a lot of research on this gene mutation and stumbled across this article that was actually really good at describing it in a way that I could easily understand…


What a defective (mutated) MTHFR gene does to you

- A mutated gene 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 i.e. you could find yourself with high iron, high copper or high mercury.

- The mutated gene doesn’t break down folate vitamins properly, which can cause high homocysteine, which can increase your risk of coronary heart disease, and related heart and BP conditions, as well as increasing your risk for dementia.

- Homocysteine is poorly converted to glutathione (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, 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. 

- 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) 


See the patterns that develop from this MTHFR gene being not quite right?
I've bolded other words that relate to me. I have a family members that have suffered with bipolar, prostate cancer and Alzheimer's… possible links there.

Some of the stuff related to gene mutations are pretty scary. If my tests come back positive this means that I will hopefully be able to prevent any future problems with the right supplements for this mutation.


There are more than one mutation of the MTHFR gene

  • Homozygous: means you have both copies of either the 677 mutation, or the 1298 mutation, one from from each parent.
  • Heterozygous: means you have one copy of either the 677 mutation, or the 1298 mutation, plus a normal one from the other parent.
  • Compound Heterozygous: means you have one copy of the 677 mutation from one parent and one copy of the 1298 mutation from the other parent.
  • Triple homozygous mutations (more rare): an example would be one C677T, one A1298C, and a P39P or R594Q, for example.

Here are possible combinations:

  • Normal/Normal for both 677 and 1298 (which is what you want!!!)
  • Heterozygous 1298 / Normal 677 (i.e. one parent passed down a single 1298 mutation)
  • Homozygous 1298 / Normal 677 (i.e. both parents passed down the 1298 mutation)
  • Heterozygous
  •  677 / Normal 1298 (i.e. one parent passed down a single 677 mutation)
  • Homozygous 677 / Normal 1298 (i.e. both parents passed down the 677 mutation)
  • Heterozygous 677 / Homozygous 1298 (one parent passed down the 677 mutation; both passed down the 1298)
  • Homozygous 677 / Heterozygous 1298 (both parents passed down the 677 mutation; one passed down the 1298)
  • Heterozygous 677 / Heterozygous 1298 (Compound Heterozygous: one parent passed 677; one passed 1298)
  • Homozygous 677 / Homozygous 1298 (Compound Homozygous, meaning you have two 677, two 1298)
Genes are passed down by your mother and your father. Most literature states there are a good 40-50 different mutations of this important gene which could be passed down by one, or both or your parents. 

But only two are particularly problematic: mutations on the points at C677T and A1298C. The numbers refer to their location on the MTHFR gene. You will also sometimes just see them written as just 677 and 1298.

Are you overwhelmed yet?

Not sure which combination I have yet but it will be super interesting to find out!!


How to treat it

You can’t change a defective gene. But you can help it do its job better and minimize problems.

Some find their ‘folic acid’ lab test levels are high (it’s one of several folate vitamins) since a defect in the gene prevents your body from using it, so it goes high…unused. The recommended solution is avoid supplements and many processed foods with folic acid, especially if you are Homozygous (having a copy of the same defective gene from each parent). Healthy foods that contain folate should be okay, as would be the active form of folate called methylfolate as a supplement, also called 5-MTHF (5-methyltetrahydrofolate).

B12 might also be high, so patients tend to avoid the synthetic supplemental version of B12 called cyanocobalamin and instead favor the more useable methylcobalamin (methylB12), which will help break down those high levels. But the methylB12 will be used by your body in detoxing you from toxins, so you may need to start low to avoid detox side effects like fatigue, achiness, etc.

Another good B-vitamin is the methyl version of B6, called P-5-P.

Repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency, and that especially includes treating candida because of the toxins it releases, inhibiting proper methylation.

Some experts recommend eating clean, such as Paleo or the GAPS diet.

Avoiding exposure to toxins is important.

If adding methyl B’s cause you to over-methylate, taking time-released Niacin, 50 mg, can slow it down. Symptoms of over-methylation can include muscle pain or headaches, fatigue, insomnia, irritability or anxiety.

Minerals play a key role in several enzymatic functions. Vitamin C helps reduce oxidants. Molybdenum (500 mcg) helps break down excess sulfates and sulfites

This website offers suggestions on how to treat your defects.

High Copper/Low zinc

This can be a common finding when you have an MTHFR defect – a high level of the neurotransmitter copper, which will conversely mean your zinc levels will fall. And since the ratio of these two metals is highly important, correcting the problem is crucial, since high copper can be related to hyperactivity, depression, headaches, acne, frequent colds due to lowered immunity, sensitive skin and/or bruising, worsening hypothyroid, adrenal stress and more.

High copper can also make it difficult to raise iron levels, including your ferritin.

Vitamin C is known to help lower high levels of copper via detoxing, but patients report they need to go low and slow to tolerate the detoxing. Zinc is also used the same way – to encourage the lowering of copper, but the same caution with detoxing applies. Lawrence Wilson, MD recommends a nutritional approach to correcting the imbalance: remove IUD’s, avoid high copper foods like chocolate
(ooooh noooo), seeds and avocados, avoid stress and more


Sooooo long story short. It sounds like I quite probably do have some form of this mutation… I will just need to wait and find out which one and then find out how to correct my diet and supplement intake to reduce the effects that this mutation has on my health.

For the full article please visit


  1. WOW....LOVE your blog!!!!!!!!!! And this post is nothing short of perfect!!! You did an amazing job putting it all together!! I look forward to your results and to more posts! I will be cheering you on come April! You can do this!

    1. Is anyone itchy all over that has the c677t mutation

  2. This was a GREAT summary. I'm also awaiting my results (from 23andme) and need to spring for an HTMA very soon. Saving this for later... Thank you!!

  3. I am encouraged to read about the copper bit and bruising. I have been bruising a lot in the past 2 weeks, and am compound hetero. I hope I can get the right kind of help with this problem.

  4. Wow! I love this blog because it is a very informative summary. Looking foreword for more...
    This site is dedicated to helping you understand and treat issues regarding imbalanced methylation and therefore your state of health.

  5. I found out through 23andme that I'm compound heterozygous. I've dealt with food reactions, one that's an allergy where I'm hypersensitive to cross-contamination, copper toxicity, and iron/vitamin E imbalance. Balancing copper and zinc along with iron and vitamin E in my diet has made a huge impact in my health. I was taking a bunch of supplements but now just take 400 IU of vitamin D with an omega supplement and probiotic. I try to get enough vitamin A through diet to balance the vitamin D. I also hope that I may get to come off my thyroid medication. It seems to be too much for me now. I wonder if the MTHFR genetic mutation has affected how my body handles vitamin and mineral balance.