MTHFR, what? Ok, what sounds like an abbreviation for a curse word is the abbreviation for an enzyme (methylenetetrahydrofolate reductase, now you know why the abbreviation is necessary.)
And why is this enzyme significant for women who want to get pregnant? I only stumbled over this because I was dipping my toes in how to prepare for mommyhood in a way.
What are the first things women do to prep for pregnancy? They stop their form of contraception e.g. pill , coil or injection, and start supplementing with vitamin B9, better known as folic acid or folate which is taken throughout the pregnancy. So that's where I am now but also I thought I could do a bit more to prep. I’m in my mid-thirties and I wanted get a proper blood test to see if anything else needed to be addressed.
And why is this enzyme significant for women who want to get pregnant? I only stumbled over this because I was dipping my toes in how to prepare for mommyhood in a way.
What are the first things women do to prep for pregnancy? They stop their form of contraception e.g. pill , coil or injection, and start supplementing with vitamin B9, better known as folic acid or folate which is taken throughout the pregnancy. So that's where I am now but also I thought I could do a bit more to prep. I’m in my mid-thirties and I wanted get a proper blood test to see if anything else needed to be addressed.
Back to that enzyme: The MTHFR gene tells your body to produce said enzyme which converts B9 like folic acid or folate into its active form and then can be used by your body. A quick reminder why B9 is so important for pregnancy:
“Deficiencies of dietary folic acid can lead to abnormalities in the mother (anemia, peripheral neuropathy) and the fetus (congenital abnormalities). Dietary supplementation with folic acid around the time of conception has been known to reduce the risk of neural tube defects (NTDs). Folic acid is also thought to reduce the risk of preterm birth and congenital heart disease.” states a review in obstetrics and gynecology of the National Center for Biotechnology Information.
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. That is why women are encouraged by their doctors to supplement with B9 even before they try to conceive.
So I had my blood work done in combination with a full physical package at Doctor Lauren Bramley’s practice which set me back around HKD 9400. Two weeks after I have given around four or five vials of my precious blood and one small shot glass of urine I came back to consult with the doc and see my test results.
“Deficiencies of dietary folic acid can lead to abnormalities in the mother (anemia, peripheral neuropathy) and the fetus (congenital abnormalities). Dietary supplementation with folic acid around the time of conception has been known to reduce the risk of neural tube defects (NTDs). Folic acid is also thought to reduce the risk of preterm birth and congenital heart disease.” states a review in obstetrics and gynecology of the National Center for Biotechnology Information.
Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. That is why women are encouraged by their doctors to supplement with B9 even before they try to conceive.
So I had my blood work done in combination with a full physical package at Doctor Lauren Bramley’s practice which set me back around HKD 9400. Two weeks after I have given around four or five vials of my precious blood and one small shot glass of urine I came back to consult with the doc and see my test results.
Well, my testosterone and progesterone was low, sex hormones which were directly tied to fertility, so I had to take supplements for that. The level of my thyroid hormones indicated that my thyroid was sluggish which had to be taken care of as well, since a pregnancy could burn out my already withering gland.
“Hmm,” the doc said while leafing through my results. One should always be attentive to the noises one’s health provider makes. “Your B12 is low. Are you a vegetarian?” If I had a steak flag I at that moment would have waved it. Noting my allegiance to animal protein she pointed at the specific marker. “You have the levels of a vegan. It’s possible that you have an MTHFR gen mutation. Are you already supplementing with folic acid or folate?” “Yes, I’m already taking folic acid.” I said almost hesitantly. “If you have the mutation you better stop taking folic acid. I’ll switch you to folate which is more bio-identical.” “Do I really have to get rid of the folic acid?” I whined thinking about the almost full bottle. “I’m afraid so. If you have the mutation folic acid will do you more harm than good.” She saw that I was curious of the why and gave me a few links I could check as she did not want to use up our entire session explaining the mutation to me. She also suggested I do a DNA test by 23andme to check if I really had it.
Apparently the MTHFR mutations to look out for are known as A222V and E429A which causes MTHFR deficiency, meaning there is a lack of the enzyme which converts B9 into its active form. Women who are MTHFR deficient have been associated with a 2 to 3-fold higher risk of having a child with severe neural tube defects and because of that have also a higher risk of miscarriage. Based on several studies those mutations are higher with certain populations: 40-50% in Caucasians, 45% in Japanese, 30% in Asians and 10-20% in Africans.
Now note that even if you are a carrier of the mutation there is still a good chance that you might not be affected. And countering the adverse effects the mutation could have on pregnancy is very easy: Instead of taking folic acid take folate instead. To be more accurate, it has to be the bioactive form of folate, known as L-5-methyltetrahydrofolate (MTHF). I’m taking this brand and you can order it from iHerb.
“Hmm,” the doc said while leafing through my results. One should always be attentive to the noises one’s health provider makes. “Your B12 is low. Are you a vegetarian?” If I had a steak flag I at that moment would have waved it. Noting my allegiance to animal protein she pointed at the specific marker. “You have the levels of a vegan. It’s possible that you have an MTHFR gen mutation. Are you already supplementing with folic acid or folate?” “Yes, I’m already taking folic acid.” I said almost hesitantly. “If you have the mutation you better stop taking folic acid. I’ll switch you to folate which is more bio-identical.” “Do I really have to get rid of the folic acid?” I whined thinking about the almost full bottle. “I’m afraid so. If you have the mutation folic acid will do you more harm than good.” She saw that I was curious of the why and gave me a few links I could check as she did not want to use up our entire session explaining the mutation to me. She also suggested I do a DNA test by 23andme to check if I really had it.
Apparently the MTHFR mutations to look out for are known as A222V and E429A which causes MTHFR deficiency, meaning there is a lack of the enzyme which converts B9 into its active form. Women who are MTHFR deficient have been associated with a 2 to 3-fold higher risk of having a child with severe neural tube defects and because of that have also a higher risk of miscarriage. Based on several studies those mutations are higher with certain populations: 40-50% in Caucasians, 45% in Japanese, 30% in Asians and 10-20% in Africans.
Now note that even if you are a carrier of the mutation there is still a good chance that you might not be affected. And countering the adverse effects the mutation could have on pregnancy is very easy: Instead of taking folic acid take folate instead. To be more accurate, it has to be the bioactive form of folate, known as L-5-methyltetrahydrofolate (MTHF). I’m taking this brand and you can order it from iHerb.
Life Extension, Optimized Folate
1000 mcg, 100 Veggie Tabs
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Dr. Bramley was so kind to explain to me in layman’s terms the difference between folate and folic acid. Folate is the natural form of B9 which is found in foods like leafy greens. Folic acid, on the other hand, is the synthetic form made in the lab and cheaper to produce. Normally the body would have to convert folic acid into its active folate form first but it needs the MTHFR enzyme for that. Now if you take active folate in the form of MTHF directly then you are bypassing the MTHFR gene and its possible mutations.
The reason why Dr. Bramley asked me to immediately stop taking folic acid is that if I was indeed a carrier of the mutation and could not use or metabolize folic acid it would build up in my system to toxic levels which could harm me and my future bun in the oven. Other studies have shown that the exposure to higher levels of folic acid increases the risk of cancer.
And yes, I also opted to do the DNA test with 23andme. But is it really necessary to get a gene test done? In Hong Kong, the 23andme test can be done through Doctor Bramley for HKD 2000 but it takes at least 2 months to get the results as your spit sample will have to be flown to Canada first. The gene test will only reveal if you are a carrier of the mutation not how big of an effect on your health it has. If you are eating a healthy diet rich in folate, are taking the right B9 supplement and you’re blood test show normal level of homocysteine then you’re all set.
Yet, even if you don’t have the MTHFR mutation many doctors advise now to supplement with MTHF instead of folic acid. A study in 2011 compared a group of pregnant women supplementing with MTHF and another group of pregnant women who were taking the usual folic acid. The study showed that MTHF was better absorbed as the women taking MTHF had higher haemoglobin levels in their 3rd trimester.
I’m currently taking 1000 mg of MTHF once per day. Depending if you’re already pregnant or if you had several miscarriages or if there is a family history of neural tube defects your doctor might prescribe a higher dosage.
Next week I will post a video about my 23andme DNA test results. Yup, got my results two days ago. It’s quite fun to play around with my raw data, check out my ancestry and athletic profile.
Comment below if you need more resources about MTHFR mutations or if you have questions about folate supplementation, DNA testing or even Doc Bramley.
The reason why Dr. Bramley asked me to immediately stop taking folic acid is that if I was indeed a carrier of the mutation and could not use or metabolize folic acid it would build up in my system to toxic levels which could harm me and my future bun in the oven. Other studies have shown that the exposure to higher levels of folic acid increases the risk of cancer.
And yes, I also opted to do the DNA test with 23andme. But is it really necessary to get a gene test done? In Hong Kong, the 23andme test can be done through Doctor Bramley for HKD 2000 but it takes at least 2 months to get the results as your spit sample will have to be flown to Canada first. The gene test will only reveal if you are a carrier of the mutation not how big of an effect on your health it has. If you are eating a healthy diet rich in folate, are taking the right B9 supplement and you’re blood test show normal level of homocysteine then you’re all set.
Yet, even if you don’t have the MTHFR mutation many doctors advise now to supplement with MTHF instead of folic acid. A study in 2011 compared a group of pregnant women supplementing with MTHF and another group of pregnant women who were taking the usual folic acid. The study showed that MTHF was better absorbed as the women taking MTHF had higher haemoglobin levels in their 3rd trimester.
I’m currently taking 1000 mg of MTHF once per day. Depending if you’re already pregnant or if you had several miscarriages or if there is a family history of neural tube defects your doctor might prescribe a higher dosage.
Next week I will post a video about my 23andme DNA test results. Yup, got my results two days ago. It’s quite fun to play around with my raw data, check out my ancestry and athletic profile.
Comment below if you need more resources about MTHFR mutations or if you have questions about folate supplementation, DNA testing or even Doc Bramley.
Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250974/´
http://www.nbcnews.com/id/35874922/ns/health-diet_and_nutrition/t/your-breakfast-giving-you-cancer/#.Vfpz5RGqpBc
http://chriskresser.com/folate-vs-folic-acid/
http://www.mthfrsupport.com.au/what-is-mthfr/
http://www.skepticalraptor.com/skepticalraptorblog.php/mthfr-gene-mutations-are-the-root-of-all-health-problems/
https://www.sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/
http://www.stopthethyroidmadness.com/mthfr/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250974/´
http://www.nbcnews.com/id/35874922/ns/health-diet_and_nutrition/t/your-breakfast-giving-you-cancer/#.Vfpz5RGqpBc
http://chriskresser.com/folate-vs-folic-acid/
http://www.mthfrsupport.com.au/what-is-mthfr/
http://www.skepticalraptor.com/skepticalraptorblog.php/mthfr-gene-mutations-are-the-root-of-all-health-problems/
https://www.sciencebasedmedicine.org/dubious-mthfr-genetic-mutation-testing/
http://www.stopthethyroidmadness.com/mthfr/
