MTHFR and your fertility

I consider myself extremely blessed to be witnessing the dawn of the genetic age, especially as it pertains to my practice and the ability to profoundly affect change in the health of my clients. 

I have written a great deal about estrogen dominance and ways to balance hormones through nutrition, but, through a lot more further study, this has a tendency to be a little like unclogging the hair in a drain without dealing with the grease in the pipe if the real issue is a methylation dysfunction such as MTHFR defects.  

So let me give you a quick refresher before we go further.

So what exactly is Methylation?

Methylation is an essential biochemical process in the body which affects your ability to utilize vitamin B12 and folate, the synthesis of neurotransmitters (dopamine, serotonin and norepinephrine), the processing of toxic heavy metals, hormonal activity, and regulation of immune system, homocysteine and gene expression.  I know…. Major science geek alert and this may  sound like a lot of biochemistry, but let me simplify the process. Many of us carry mutations or defects in methylation genes, and there is one in particular that has been extensively researched called “MTHFR”, or methylenetetrahydrofolate reductase. This particular gene mutation is implicated as one causative factor in a very long list of conditions.  (See previous post for an extensive list.)

Though MTHFR (both C677T and A1298C) are carried in your family tree, how the genes are expressed is entirely another.  

Let’s talk about the reason the methylation pathway is so important for a moment.  The methylation pathway is one of the most important factors in gene expression and a properly functioning methylation pathway aids in better gene expression and better gene expression unequivocally equals greater health.  (Also better gene expression equals a slow down in aging…but that’s a story for another time.)  

We cannot change our genes but our gene expression is extremely malleable determined by lifestyle, nutrition and toxin/chemical/drug exposure.  This means that if your lifestyle and nutrition are up to par and you are keeping your exposure to toxins and other stressors to a minimum your genes will be expressed in a much more positive manner.

S0 methylation is a process of effectively turning off or turning genes by adding methyl groups to strands of DNA. For simplicity’s sake, wherever there is a methyl group, that gene will be silent, and when the methyl group is removed, the gene will be expressed. This knowledge is huge for me because the implications are enormous in determining and treating the susceptibility for any dysfunction, disease or disorder that we may carry.  If our methylation pathways are functioning optimally, we reduce, exponentially, the instances of cardiovascular and/or neurological disease, cancer and many other health issues.

Let’s give you a break down of what this methylation pathway defect might look like for you.  

There are two versions of the methylenetetrahydrofolate reductase gene: MTHFR C677T and MTHFR A1298C. With both of these, you could carry either one copy (heterozygous) or two copies (homozygous) of the affected gene. The combinations are listed below, with the most significant first:

  • MTHFR C677T–homozygous (70% reduction in methylation)
  • MTHFR C677T & A1298C–heterozygous (50% reduction in methylation)
  • MTHFR A1298C–homozygous (30% reduction in methylation)
  • MTHFR C677T – heterozygous (30% reduction in methylation)
  • MTHFR A1298C – heterozygous (minimal reduction in methylation)

Just so you know approximately 35% of the general population carry some sort of polymorphism with the MTHFR gene. 

Let me say that there is a silver lining in that the MTHFR defect can be corrected by supporting the process with the correct forms of nutrients to, essentially ‘bypass‘ the faulty enzyme. Nutrients typically required are the methylated versions of folate, called 5-MTHF and vitamin B12 in the form of methylcobalamin. Methylation however, is a more complicated process than just one enzyme, so if we are looking to support your genetics, I highly recommend testing more than the MTHFR gene in order to look at surrounding enzymes and pathways in the methylation cycle.

What’s all this got to do with fertility?

I’m so glad you asked.  There are many studies associating MTHFR defects with “unexplained fertility”  In one recent study MTHFR is implicated,  specifically in implantation issues due to thrombophilia, or a tendency to form blood clots:

“Earlier studies have shown inherited thrombophilia to be a risk factor for recurrent implantation failure, raising the question of whether this risk is related to the underlying cause of unexplained infertility or to the mechanisms involved in the implantation process. When nine thrombophilic gene polymorphisms were compared among 92 women with the diagnosis of unexplained infertility and 60 fertile control women,women with a history of unexplained infertility displayed a higher prevalence of MTHFR C677T polymorphisms than control women.”

Yet another study found that high homocysteine levels (a consequence of MTHFR C677T homozygous state) is associated with oocyte (egg)  immaturity and poor early embryo quality. The study shows that MTHFR gene variants are associated with lower ovarian reserves, diminished response to follicular stimulation, and reduced chance of live birth after in vitro fertilization. If you are being told you have low ovarian reserves under the age of 40 I always recommend we look at and treat MTHFR defects to improve egg quality and that recommendation has worked well in a vast number of cases.

Homozygous MTHFR C677T is also associated with recurrent miscarriage, due to the potential for blood clot formation (thrombophilia).  Because this does not occur in every case, this is not a given as there are other mechanisms at play here including B-vitamin status, lifestyle, and nutritional factors.

In our next post, I’ll discuss ways in which we determine what polymorphisms exist, the ones I use with my clients, some of the ways methylation pathways can be treated and some of the supplements that are used in the treatment of MTHFR defects. 

Please note, however, if you suspect you have MTHFR pathway defects, it is best to seek the help of a qualified health professional such as The Detox Diva to individualize a plan specifically for you as each person with these defects could have their own set of symptoms and need a highly individual treatment plan.

Wishing you health, wellness and beauty,


4 replies
  1. emmy
    emmy says:

    My understanding is that animal based folate (folate obtained by consuming animal products) is already in the usable methylfolate form. For example egg yolk contains the highly usable 5-methyltetrahydrofolate. So, just get your folate from eating egg yolk, beef, liver, etc… and you won’t need any fancy supplements. I feel like people make this topic a lot more than it really is. If you have a MTHFR defect, don’t get your folate from plants, get it from animals. That is essentially what your body is saying.

    • thedetoxdiva
      thedetoxdiva says:

      You are right, actually (and we will be talking about this in a future post) right up to where you say that people make more of this topic than it really is. If you are homozygous or compound heterozygous this can be extremely problematic, especially when considering other mutations you may carry and your toxic load. People that have compound heterozygous or, more rare, compound homozygous have a difficult time even processing folate from animal sources and have high homocysteine. It’s too easy to say it’s not a big deal. Yes, only 35% of us are running around with any kind of problematic mutation so it’s not a cure all but if there are health issues that are not remedied by other means that would normally be effective then genetic issues need to be ruled out. I love working with this gene because it is the fastest and easiest to treat and it is becoming more and more problematic. It shouldn’t be used as a “schtick” of any health care provider (nothing should) but it can’t be dismissed. Working with MTHFR mutations (as I do regularly) has helped autistic children and adults with ADD with focus and other emotional symptoms and has helped many reverse cardiovascular disease and learning how to work with epigenetics is proving to be a powerful tool in finally getting many health care plans “right”. MTHFR is NOT the only gene we should be talking about (and in my practice, we don’t only look at this gene) but I feel like many gravitate towards it because it is the most understood and easiest treated.

      • emmy
        emmy says:

        Thank you for such a quick reply. I’m really glad that you have had such success treating people in this area. You must be doing it right. I’ve heard of people going to other practitioners and ending up over-methylated and feeling lousy.

        • thedetoxdiva
          thedetoxdiva says:

          Ah but that’s the difference between me and most practitioners. Most will throw tons of supplements (high amounts) or won’t look at which ones are actually lacking before they start treating. I tend to start with nutrition and then am EXTREMELY judicious to avoid overmethylation. I also work with EBV sufferers who are already overmethylating so it’s a delicate balance with me!


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