MTHFR infertility: here are two challenges I frequently see in my acupuncture practice. Did you know your fertility can affected by an MTHFR gene mutation? How would you know? This blog helps you understand exactly that.
The methylenetetrahydrofolate reductase (MTHFR) gene is in charge of instructions for the body to convert folate to folic acid. This chemical process (called methylation) is crucial for the health of your brain, processing of toxic heavy metals, your hormone balance, your immune system and your cardiovascular system. MTHFR gene variances are more frequently found in women with infertility and are associated with fetal development issues.1 Some of those developmental and pregnancy problems include: miscarriage, blood clotting irregularities, autism, spina bifida, and Down’s syndrome.
Keep in mind: there are varying degrees of symptoms with genetic mutations. Some genetic abnormalities cause few problems and others create enormous health challenges. It is also now recognized that significant numbers of the human population carry MTHFR mutations.2
Take for example this quote from the immensely respected, Dr. Francis S. Collins. He is the former director of the National Institutes of Health. Dr. Collins also directed the National Human Genome Research Institute and led the Human Genome Project to its successful completion.
“…genes are generally not destiny, especially for common conditions like heart disease, diabetes, or cancer.” 3
If you know you do have gene mutation such as an MTHFR gene mutation, rather than worry, you can be proactive about your health and self-care choices. In my Corte Madera, CA private practice, I share this information daily with my acupuncture and fertility patients. It is absolutely possible to reduce risk factors and thereby help your body function at its best.
Should you get MTHFR gene testing? How do you decide?
As I discussed in the blog post previous to this one, if you have experienced multiple miscarriages, infertility, blood clotting or failed IVF cycles, you may want to consider MTHFR testing. It is also valuable to consider the health history of your family members. If there are members of your family who have had: heart attacks at an early age, a history of addictions, or a history of mental illness, these are indications to consider MTHFR testing. All of the above noted health issues are associated with what are called “methylation defects”. Methylation defects occur if the MTHFR gene is not functioning well.
What do the MTHFR letters & numbers on your lab results mean?
If you seek MTHFR genetic testing, you will find lots of terms with letter and number combinations on your lab result reports. The names of genes or locations on specific genes contain both letters and numbers. The names may reflect normal genes as well as what are called single nucleotide polymorphisms (SNP’s or “Snips”). SNP’s are a type of genetic mutation. Below you’ll see the more common MTHFR gene names and MTHFR gene mutation names.
GENES & MUTATION NAMES & WHAT THEY MEAN
|MTHFR 677CC||Normal MTHFR gene|
|MTHFR 677CT||One base on the MTHFR gene is mutated
(aka heterozygous mutation)
|MTHFR 677TT||Both base pairs of the MTHFR gene are mutated
(aka homozygous mutation)
|MTHFR 1298AA||Normal MTHFR gene|
|MTHFR 1298AC||One base on the MTHFR gene is mutated
(aka heterozygous mutation)
|MTHFR 1298CC||Both base pairs on the MTHFR gene are mutated
(aka homozygous mutation)
|MTHFR 577CT & MTHFR 1298AC||Both base pairs at 2 different positions on the MTHFR gene are mutated
(aka compound heterozygous mutation)
Science nerd information for inquiring minds
SNPs, or “snips,” refer to single nucleotide polymorphisms. They are modifications in the DNA building blocks of adenine (A), thymine (T), guanine (G), and cytosine (C).
An SNP is a difference in one of the building blocks above or a difference in the order of those building blocks. Most have no significant effect on health. However, some can actually predict things like response or tolerance to drugs, risks of developing illness, or sensitivity to toxins, etc. There is great scientific interest in logging and studying SNPs in order to improve medical care and fertility challenges.
Regarding MTHFR infertility:
MTHFR 677CT & MTHFR 1298AC are the most common MTHFR gene mutations
MTHFR 677CT mutations are associated with:
- Cardiovascular problems,
- High homocysteine levels,
- Neural tube defects (birth defects of the brain & spine such as spina bifida & anencephaly).
MTHFR 1298AC mutations are associated with:
- Chronic pain,
- Mood related problems.
What about high homocysteine levels & MTHFR? What is the connection?
Some MTHFR gene mutations cause high levels of homocysteine in the body. This happens as a result of folate not being processed correctly. When homocysteine levels rise in your body, you have higher risks for stroke, high blood pressure, blood clotting and pulmonary embolus. If you are seeking to become pregnant, those are significant concerns. Recommended supplements to address the build-up of homocysteine include types of Vitamin B.
There are so many kinds of Vitamin B. What kind of Vitamin B is best if you have a MTHFR gene mutation?
As for Vitamin B: methylfolate is considered a better choice as opposed to folic acid or folate. If you are reading labels, you will probably see folic acid and folate listed in products a lot. In part, this is because it is a cheaper form of Vitamin B for manufacturers to use. Secondly, folic acid and folate have also been the topic of more research studies as compared with methylfolate.
Please note: individuals with MTHFR 677CT mutations do not process folate or folic acid well. It is best for them instead to take supplements with methylfolate. Methylfolate is an easily digestible form of Vitamin B. When methylfolate is listed on labels, it is called:
“L-methylfolate”, “5-MTHF” or “L-5-MTHF”.
Being that methylfolate is safe, is immediately and easily absorbed, and not radically more expensive, I do recommend it to my patients. It is good to carefully read product labels, especially if you have the MTHFR 677CT or MTHFR 677TT mutations. Even though some debate continues: methylfolate is safe for almost all people; so why risk it?
Below is a list of supplements recommended for most people who have MTHFR gene mutations. I am deliberately not listing dosages because it is always best to consider these supplements while under the care of a health care professional.
*Please always consult with your physician and licensed health care team before embarking on any new course of action.*
Labels will read: L-5-Methyltetrahydrofolatemethylfolate, L-5-MTHF or L-5-MTHF.
**Please note some literature exists cautioning use of high dose L-methylfolate for individuals with a bipolar diagnosis. These persons tend to tolerate Vitamin B3 (Niacin), Vitamin B6, and Magnesium as alternate methylfolate.**
Please see this article written by Dr. Ben Lynch, ND on supplements to support best absorption of methylfolate http://mthfr.net/preventing-methylfolate-side-effects/2014/11/26/
also known as Levomefolic acid and Metafolin
Active B12 Also known as holotranscobalamin
Vitamin D3 oral drops
Fish oils with EPA/DHA in triglyceride form.
Riboflavin (Vitamin B2) Riboflavin has been found to lower blood pressure, specifically
in patients with MTHFR 677TT gene mutation.5
Thank you for reading!
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~Karen Reynolds, RN, MS, LAc
1Reyes-Engel, A., Munoz, E., Gaitan, M.J., Fabre, E., Gallo, M., Dieguez, M., Ruiz, M., Morell, M. (2002). Implications on human fertility of the 677CàT and 1298AàC polymorphisms of the MTHFR gene: consequences of a possible genetic selection. MHR: Basic science of reproductive medicine, 8(10) October 2002, 952-957. https://doi.org/10.1093/molehr/8.10.952
2Wilson, C.P., McNulty, H., Ward, M., Strain, J.J., Trouton, T.G., Hoeft, B.A., Weber, P., Roos, F.F., Horigan, G., McAnena, L., Scott, J.M. (2013). Blood Pressure in Treated Hypertensive Individuals with the MTHFR 677TT Genotype is Responsive to Intervention with Riboflavin. Hypertension, 61, 1302-1308. doi: 10.1161/HYPERTENSIONHA.111.01047/-/DC1
3Collins, F.S. (2010). The Language of Life: DNA and the Revolution in Personalized Medicine. New York, NY: Harper Collins Publishers.
4Wald, D.S., Law, M., Morris, J.K. (2002). Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis. British Medical Journal, 2002: 325:1202. https://doi.org/10.1136/bmj.325.7374.1202
5McNulty, H., Strain, J.J., Ward, M (2014). Riboflavin lowers blood pressure in hypertensive people with MTHFR 677TT genotype. Hypertension, 72 Supplement 1. https://doi.org/10.1186/2049-3258-72-S1-K2
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