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Chapter: MTHFR

MTHFR gene

Methylenetetrahydrofolate reductase gene

 

Names of MTHFR genetic variants (SNP identification)

rsnumber

Risk allele

MTHFR C677T

rs1801133

A

MTHFR A1298C

rs1801131

G

 

MTHFR C677T—Having the risk allele for MTHFR C677T is one of the most significant genetic variations currently known. Thankfully there is a simple solution for anyone who has one or more risk allele(s) for MTHFR C677T.

 

Who has the MTHFR C677T risk allele(s)?

Ethnic distribution of MTHFR C677T mutations

Homozygous (T, T) genotype

U.S. Africans

0-2%

U.S. Caucasians

10-12%

U.S. Hispanics

20-22%

                                   Table 1 6,14

 

MTHFR A1298C—Having the risk allele for MTHFR A1298C is believed to be less important than MTHFR C677T listed above, but still significant to your health, and still may require nutritional support to protect against this genetic variation. There is a simple solution for anyone who has one or more risk allele(s) for MTHFR A1298C.

 

What does the MTHFR gene do?

 

  • The MTHFR gene is important for your ability to activate vitamin B-9—The MTHFR gene produces an enzyme that is also called MTHFR, which is essential for converting the inactive form of vitamin B-9 into the activated form of vitamin B-9. The methyl-activated form of vitamin B-9 is called Quatrefolic acid or L-5-MTHF, and is what the body needs for normal metabolic functions. Having one or more risk allele(s) in the MTHFR gene simply means that your body can’t naturally convert the inactive form of vitamin B-9 into the active form. This means that you won’t be able to adequately use the vitamin B-9 from your diet and will require a specific supplemental form of vitamin B-9.

 

  • MTHFR is important for your ability to detoxify—Think of MTHFR as a gene that creates a rotating door to remove toxins from the body after they enter through the environment. If you have an MTHFR risk allele, then your rotating door is not working efficiently and you’re likely building up toxins. Having the risk allele for MTHFR C677T is much more significant for your health than having the risk allele for MTHFR A1298C. However, having the risk allele for MTHFR A1298C is still an issue that needs to be addressed and properly treated by supplementing with vitamin B-9 in the methyl-activated form called methyl-activated Quatrefolic acid or L-5-MTHF.

 

  • MTHFR plays an important role in turning genes on and off—MTHFR plays an extremely important role in the body’s ability to methylate, which is essential for turning genes on and off.

 

What health problems are associated with having a risk allele for the MTHFR gene?

 

If you have the risk a risk allele for the MTHFR gene, and it’s undiagnosed or not treated with proper nutritional supplementation, it can lead to serious health problems. Some of these include:

  • Stroke
  • Diabetes4, 7
  • Multiple sclerosis
  • Cancer4, 5, 14
  • Alzheimer’s disease
  • ALS (amyotrophic lateral sclerosis)
  • Depression2, 3
  • Anxiety disorders3
  • Atherosclerosis4
  • Parkinson’s disease
  • Celiac disease
  • Chronic fatigue syndrome
  • Fibromyalgia
  • Pregnancy complications
  • Mitochondrial disease
  • Systemic lupus erythematosus
  • Neural tube defects (Spina bifida)
  • Miscarriages
  • Reproductive problems10, 11
  • Down syndrome
  • Bipolar disorder3
  • Schizophrenia8, 4
  • Inflammation
  • Blood vessel damage
  • Thrombosis (blood clots)
  • Autism1,9
  • Autoimmune diseases12, 13
  • Osteoporosis
  • High homocysteine level on blood work—Having a risk allele in the MTHFR gene decreases the body’s ability to metabolize homocysteine, resulting in a higher homocysteine level.

 

MTHFR genetic variants and your child’s health

 

What does having an MTHFR risk allele mean for an unborn child’s health?

 

It’s incredibly important for women to be diagnosed and treated for having an MTHFR risk allele before becoming pregnant. If a woman is being treated with proper nutritional supplementation before getting pregnant and while pregnant, her child’s chances of developing autism and neural tube defects like spina bifida are dramatically reduced.

 

Autism and MTHFR risk alleles

 

There is a 2.79-fold increased risk for developing autism in children with MTHFR with a risk allele for MTHFR C677T1. However, having the risk allele for both MTHFR C677T and A1298C significantly increases the risk of developing autism1. There is an 8.11-fold increased risk of developing autism if someone has all four risk alleles for both MTHFR C677T and MTHFR A1298C1.

 

Healthy mommies + healthy pregnancies = healthy babies

 

All women of child-bearing age, particularly pregnant women, should strongly consider taking a prenatal vitamin with extra vitamin B-9 in the methyl-activated form called Quatrefolic acid or L-5-MTHF. It’s particularly important for women with any MTHFR risk alleles to be taking the methyl-activated form of vitamin B-9 before conception, throughout pregnancy and while nursing.

 

Pregnant women who have one or more MTHFR risk allele(s) are at an increased risk for miscarriage; a more complex, high-risk pregnancy; and developing pre-eclampsia. Even if a pregnant woman doesn’t have an MTHFR risk allele, she may still benefit from taking the methyl-activated form of vitamin B-9 called Quatrefolic acid or L-5-MTHF. Her unborn child may also still benefit, particularly if the baby is inheriting a risk-allele paternal MTHFR gene.

 

One important study showed that women who took at least 400 mcg of vitamin B-9 every day starting at least four weeks before pregnancy, and through eight weeks after the start of their pregnancy, were 40 percent less likely to have a child diagnosed with autism spectrum disorder13.

 

An MTHFR risk allele: A big problem or a non-issue?

 

Thankfully there can be an easy solution to preventing health problems related to having one or more MTHFR risk allele(s). If women are educated about proper nutrition before and during pregnancy, and they ensure that their children get proper nutrition from an early age, their risk for developing MTHFR-related health problems should be a non-issue.

 

I have an MTHFR risk allele. What should I talk to my doctor about doing so that I can reduce my health risks?

While there are many significant health risks related to MTHFR genetic variation, they’re easily corrected and bypassed through proper nutritional supplementation.

 

Nutrition to bypass MTHFR genetic variations:

 

  • Consider supplementing with the activated form of vitamin B-9 called Quatrefolic acid or L-5-MTHF —This is an easy and powerful step toward protecting your health and bypassing health problems related to having a risk allele in the MTHFR gene. Having both the knowledge of an MTHFR risk allele and the ability to nutritionally bypass the health problems with a simple nutritional supplement is truly a gift that could add both quality and quantity to your life.

 

  • Consider supplementing with vitamin B-2—The MTHFR enzyme requires vitamin B-2 to function properly; therefore, taking a high-quality activated B-complex with the activated forms of both vitamins B-9 and B-2 can be very helpful. The activated form of vitamin B-2 is called riboflavin-5’-phosphate.

 

  • Avoid high amounts of folic acid—Folic acid is the inactive, synthetic form of vitamin B-9, which is used to fortify foods and most nutritional supplements. Anyone with one or more MTHFR risk allele(s) should avoid taking the supplemental forms of regular folic acid in large amounts, as it can compete with the activated form of vitamin B-9, causing potential health problems.

 

  • Eat a diet high in green, leafy vegetables—Green, leafy vegetables are naturally high in vitamin B-9 (folate) and are essential for health. Eating a diet high in vegetables is important, but diet alone is often not sufficient for people with a risk allele in the MTHFR gene. Only about 50 percent of dietary folate is absorbed from food13. For those with a risk allele in the MTHFR gene, only around 30-80 percent of the dietary folate absorbed in the intestines will be converted to the methyl-active form of vitamin B-9 called Quatrefolic acid or L-5-MTHF. And many people are not eating enough green leafy vegetables in the first place. If you have a risk allele for the MTHFR gene, you need to take to talk to your doctor about taking a supplemental form of vitamin-B9 in the methyl-activated form called Quatrefolic acid or L-5-MTHF.

 

  • Eat a diet high in foods that promote methylation—These include raw beets; raw, dark, green, leafy vegetables; raw broccoli; egg; chicken; beef; garlic; nuts; pork; fish; broccoli; citrus fruits and beans.

 

  • Exercise—Exercise has been shown to improve methylation in people with a family history of diabetes7.

I have the risk allele in the MTHFR gene. What type of vitamin B-9 should  I consider supplementing with?

 

You need to consider taking the methyl-activated supplemental form of vitamin B-9 called Quatrefolic acid or L-5-MTHF. These are the naturally occurring, activated form of vitamin B-9. The methyl-activated form of vitamin B-9 is the form of vitamin B-9 that the body needs to function properly, and is the activated form of vitamin B-9 that the body makes using the inactive forms of vitamin B-9 (folic acid or folate). If you have a risk allele in the MTHFR gene, you won’t convert the inactive forms of vitamin B-9 (folate, folic acid) into the active form (Quatrefolic acid or L-5-MTHF). If you have the risk allele for the MTHFR gene, you should consider including a nutritional supplement that contains the methylated form of vitamin B-9 (Quatrefolic acid or L-5-MTHF).

 

 

With the risk allele in the MTHFR gene, what type of vitamin B-9 should I avoid supplementing with?

 

Avoid supplementing with the inactive form of vitamin B-9 called either folic acid or folate.

Folic acid is a synthetic form of vitamin B-9 in the inactive form, found in most nutritional supplements. Vitamin B-9 in the form called folic acid is not sufficient for people with a risk allele in the MTHFR gene. Folic acid is found in fortified foods and most nutritional supplements. Folic acid requires the body to convert it to the methyl-activated form of vitamin B-9 called Quatrefolic acid or L-5-MTHF. This process of converting the folic acid to the activated form doesn’t occur efficiently in people with the MTHFR risk allele.

 

Folate is the inactive form of vitamin B-9 found in food. This form of folate isn’t sufficient for people with a risk allele in the MTHFR gene. Folate is a form of vitamin B-9 that is naturally occurring in green leafy vegetables. It requires the body to convert it to the active form of vitamin B-9. The conversion from inactive folate to the active form of vitamin B-9 doesn’t occur efficiently in people with the MTHFR risk allele. It’s always important to eat a diet high in green, leafy vegetables, but anyone with a risk allele in the MTHFR gene shouldn’t depend on diet alone to satisfy their vitamin B-9 requirements.

Talk to your doctor about what type and dosage of B-9 you might need.

I have an MTHFR risk allele. What lab/testing should I consider to monitor my health?

 

  • Homocysteine (blood test)—I prefer to see homocysteine below 8 on blood work. Homocysteine is an excellent test to easily measure how much damage is occurring in the body from having one or more risk allele(s) in MTHFR gene.

 

  • A methylation profile (blood test)—This should include levels of folate, cystathione, cysteine, homocysteine, methionine, SAMe (S-Adenosyl-L-methionine) and SAH (S-adnosylmethionine).

 

     

Homocysteine: An easy lab test that could save your life

 

Homocysteine is a lab marker that can tell you a lot about how well your methylation pathways are working. A high homocysteine level can increase your risk for a heart attack, stroke, Alzheimer’s disease, cancer and giving birth to a child with birth defects such as spina bifida. It’s vital to know your homocysteine level!

 

What homocysteine level is too high? As a doctor who is highly interested in preventing my patients from developing health problems, when I am reviewing at my patients’ lab results, I prefer to see a homocysteine below eight. The lower your homocysteine level, the less likely you are to experience hearing loss, macular degeneration, migraines, vascular damage, congestive heart failure, Alzheimer’s, dementia, stroke, atherosclerosis, cancer, general inflammation, and pregnancy-related problems such as pre-eclampsia.

 

What level of homocysteine do most physicians consider too high? Most doctors make their recommendations based on the acceptable lab range for homocysteine; therefore, your doctor will likely not mention your homocysteine level being too high until it is above 15. Unfortunately, most doctors don’t include homocysteine in routine lab work they order for their patients.

 

How can I lower my homocysteine level? If you have a high homocysteine level, then you likely have one or more risk alleles (genetic variants) in your methylation genes. The smartest way to lower your homocysteine level is to get tested to determine your exact genetic variants, then work with your doctor to add the correct nutrition associated with each genetic variant. In general, the active forms of vitamin B-6, vitamin B-9, vitamin B-12, TMG and betaine have shown to help lower homocysteine.

 
  • Routine cancer screenings—All appropriate tests should be performed regularly: colonoscopy, EGD (upper endoscopy of the stomach), skin exam, thyroid exam, prostate exam, Pap smear, breast exam and routine blood work

 

References:

1.) Mohammad et al, Aberrations in folate metabolic pathway and altered susceptibility to autism. Psychiatr Genet 2009 Aug; 19(4):171-6.

2.) Robert J Hedava. Nutrition and Depression: Nutrition, Methylation, and Depression, Part 2 Nutritional support for the methylation cycle plays a critical role. Published on November 22, 2010. http://www.psychologytoday.com/blog/health-matters.

3.) Gilbody S, et al. Methylenetetrahydrofolate Reductase (MTHFR) Genetic Polymorphisms (C677T variant) and Psychiatric Disorders: A HuGE Review. Am J Epidemiol. 2007;165:1-13.

4.) Melas PA, Rogdaki M, Ösby U, et al.Epigenetic aberrations in leukocytes of patients with schizophrenia: association of global DNA methylation with antipsychotic drug treatment and disease onset. FASEB J. 2012, 26:2712–8. 

5.) Thillainadesan G, Chitilian JM, et al. TGF-β-dependent active demethylation and expression of the p15ink4b tumor suppressor are impaired by the ZNF217/CoREST complex. Mol Cell. 2012 Jun 8;46(5):636-49.

6.) Siaw-Cheok Liew, Esha Das Gupta. Methylenetetrahydrafolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism, and the associated diseases.Eur J Med Genet. 2015 Jan;58(1):1-10.

7.) Nitert M. D., Dayeh T., Volkov P., et al.. (2012). Impact of an exercise intervention on DNA methylation in skeletal muscle from first-degree relatives of patients with type 2 diabetes. Diabetes 61, 3322–3332. 10.2337/db11-1653

8.) Rutten BPF, Mill J. Epigenetic mediation of environmental influences in major psychotic disorders. Schizophr Bull. 2009;35(6):1045–56.

9.) Nguyen A., Rauch T. A., Pfeifer G. P., Hu V. W. Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. The FASEB Journal.2010;24(8):3036–3051.

10.) Anway MD, et al. Epigenetic Transgenerational Actions of Endocrine Disruptors and Male Fertility. Science. 2005 Jun 3;308(5727):1466-9.

11.) Anway MD, et al. Epigenetic transgenerational actions of endocrine disruptors. Endocrinology. 2006 Jun;147(6 Suppl):S43-9

12).  Greer, J., P.: The role of epigenetic mechanisms and processes in autoimmune disorders. Biologics. 2012; 6: 307–327. Published online 2012 September 6.

13.) Hamilton, John. Folic Acid for Pregnant Mothers Cuts Kids' Autism Risk. (2013. Feb 12th). Retrieved from: http://www.npr.org/sections/health-shots/2013/02/25/171828067/folic-acid-for-pregnant-mothers-cuts-kids-autism-risk

14.) Thomas, Philip; Fenech, Michael. Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease. Pg.375-386.

 

 
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