What is MTHFR? – Dr. Berg Explains in Simple Terms (2024)

FAQs

What is MTHFR in layman's terms? ›

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving the vitamin folate (also called vitamin B9).

Avoid all products with added or fortified folic acid which is the synthetic form of vitamin B9 found in fortified supplements (pregnancy supplements) breads, cereals and commercially produced flours. Avoid processed foods that have synthetic folic acid added to them.

Beyond heart disease, several different kinds of symptoms have been attributed to MTHFR gene mutations, including fatigue, chronic pain, brain fog, depression and anxiety, estrogen dominance, and headaches. These are common symptoms that we see and treat daily in our clinic.

Normally, your body quickly breaks down hom*ocysteine, so you have very little in your bloodstream. But if you have a change in an MTHFR gene, the MTHFR proteins your body makes may not process folate as well as they should. As a result, you may have increased levels of hom*ocysteine in your blood.

The MTHFR mutation will also cause issues with detoxing properly, as well as issues with hormone balance and immune system function. It has been associated with autoimmune conditions such as fibromyalgia, Hashimoto's, and lupus.

To support overall health, people with this genetic variation are advised to eat a healthy diet that includes foods rich in folate, B vitamins, choline, and methionine. This includes foods such as leafy greens, legumes, fortified grains, animal products, nuts, and seeds. This can be thought of as an “MTHFR diet”.

Folic acid is the synthetic form of folate that cannot be used by those with a MTHFR defect and which can be very toxic. avoid any supplements with folic acid and only take L-MTHF forms, which are the methylated forms that my body can use.

It's easy to become deficient in vitamin B12 if you have MTHFR mutation, but you can get this micronutrient from foods such as beef, chicken, eggs, fish, turkey. The best sources of vitamin B12 are animal-based, but make sure to avoid common pitfalls. Avoid processed meats and other processed foods, for that matter.

Due to the large, varied and often conflicting data reported on MTHFR, these polymorphisms have been weakly associated with multiple conditions, including autism, schizophrenia, cardiac disease, fetal neural tube defects, poor pregnancy outcomes and colorectal cancer.

What is the life expectancy of someone with MTHFR? ›

The median survival time of this group was 11months compared with 38 months and 36 months for men with ala/ala and ala/ val genotype, respectively. Among women, the MTHFR mutation was not associated with a difference in life expectancy (P log-rank = 0.16).

MTHFR genetic mutations have been linked to both weight gain or ineffective weight loss efforts. This may be due to nutritional deficiencies that result from poor methylation in the body. Methylation is required for numerous metabolic processes and has been implicated in weight gain and obesity.

Some of the best multivitamins for MTHFR mutation are methyl folate, active B12 and B6, vitamin D3, and glutathione. Vitamin B12 shots help combat the side effects of MTHFR mutations. Genetic testing can help identify MTHFR mutations, and a simple blood test can reveal nutritional deficiencies.

If you've found that traditional medicine is helpful to you--which, for some conditions, it very well may be--finding a licensed Naturopathic Doctor (ND) or an MD who has also studied naturopathy may be the optimal choice for you.

With impaired MTHFR genetic function, toxins can build up in the body overtime. It is critical to help facilitate the body's detoxification pathways by avoiding toxins from the following places: Filter drinking water as well as bath and shower water. Use non-toxic personal care and beauty products.

Over time, the downstream effects of mutations in the MTHFR gene can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer's disease, and more.

An MTHFR defect can also impair the body's ability to synthesize important brain neurotransmitters, so that brain-based disorders may arise. An MTHFR defect has been linked to depression, anxiety, brain fog, ADHD, bipolar disorder, and even schizophrenia.

It's also possible to acquire both C677T and A1298C mutations, which is one copy of each. Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a hom*ozygous mutation is higher.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn error of metabolism inherited in autosomal recessive pattern and is associated with a wide spectrum of neurological abnormalities.

Most people who have MTHFR benefit from taking methylcobalamin (methylated B12). In addition, consume more natural forms of B12, folate, and vitamin B6 (also important in the process of detoxification), such as beans, lentils, asparagus, broccoli, and avocado.

Is gluten bad for MTHFR? ›

A leaky gut allows large undigested molecules to pass into circulation, these substances then trigger an inflammatory response. It is then highly recommended for those with MTHFR to avoid gluten as part of their treatment plan. Avoiding substances that cause inflammation will reduce strain on the body.

Summary answer: Women with MTHFR 677TT (hom*ozygous mutation, TT) genotype have significantly lower vitamin D levels, higher hom*ocysteine and natural killer (NK) cell cytotoxicities than those of women with MTHFR 677CC (wild type, CC) and 677CT (heterozygous mutation, CT) genotypes.

Those with MTHFR taking methylfolate can experience many severe side effects, including gut inflammation and other types of pain and discomfort such as achy joints, sore muscles, and migraines.

During pregnancy, women who test positive for a mutated MTHFR gene may have a higher risk for miscarriages, preeclampsia, or a baby born with birth defects, such as spina bifida.

Our results suggest that cocoa consumption produces a more potent effect on the reduction of DNA methylation levels in humans with normal activities of MTHFR and MTRR enzymes.

Foods high in folate should form the basis of the daily MTHFR meal plan. This means plenty of dark leafy greens such as spinach and kale; legumes such as beans and lentils; broccoli, asparagus, and avocado. Vitamins B6 and B12 are also crucial.

Dairy sensitivity tends to co-occur with gluten sensitivity, which, in people with MTHFR, a mutation can cause discomfort and other uncomfortable symptoms. Make sure to either avoid dairy entirely or decrease consumption.

Each person has two copies of the MTHFR gene: one from his or her mother and one from his or her father. These are the possible genotypes* of the MTHFR gene (see illustration): MTHFR 677 CC (two copies of C, one copy from each parent);

The most common MTHFR mutation is called the MTHFR C677T mutation. The mutation is extremely common in certain ethnic and geographic populations. In the United States, ≈20% to 40% of white and Hispanic individuals are heterozygous for MTHFR C677T. The mutation is less common in blacks (1%–2%).

Research suggests that MTHFR genetic mutations may lead to reduced folate metabolism, which in turn can impact the production and function of these neurotransmitters. This disruption in neurotransmitter function may contribute to the development of anxiety.

Is MTHFR an autoimmune disorder? ›

MTHFR is a form of an autoimmune disease.

Many studies that suggest that the MTHFR C677T SNP is associated with an increased risk of breast cancer in various populations, including Asian, Jewish, premenopausal, and postmenopausal women.

Its deficiency leads to an increased serum level of hom*ocysteine, which is well-known to be associated with premature coronary artery disease (CAD). Our case demonstrates the association of MTHFR polymorphism with premature CAD and myocardial infarction (MI) despite normal hom*ocysteine levels.

Supplementing with L-methylfolate has been shown to reduce hom*ocysteine levels by improving your body's methylation processes. It's often recommended for those with elevated hom*ocysteine and also for those with treatment-resistant depression.

The connection between MTHFR and mental health can be important to understanding your mood and energy levels. Genotypes associated with decreased activity of the MTHFR enzyme may lead to decreased vitamin B9 metabolism and less methylfolate. This may predispose those individuals towards having low mood and energy.

The results of this study suggest that the MTHFR C677T variant was significantly associated with hypothyroidism. In addition, in individuals with T allele risk of hypothyroidism significantly increased.

The high dose Methylcobalamin (B12) range is between 2-15 mg (with many people falling into the 5-10 mg category, but some can get injections for 25+ mg) – if you have MTR & MTRR mutations, you might need significant doses of this (I personally take about 8-12 mg a day).

Moreover, genetic predisposition was demonstrated in vitamin B12 deficiency. For instance, mutations and polymorphisms in transport proteins such as transcobalamin TCN, gastric intrinsic factor GIF and metabolic enzymes such as methylenetetrahydrofolate reductase MTHFR have been associated with vitamin B12 deficiency.

You, of course, can always ask your primary care physician to order an MTHFR blood test for you. Although, most insurance companies do not cover this type of MTHFR gene test, and may leave you with an $800-$1,000 bill.

Those with MTHFR are advised to supplement with folate and vitamin B12 to assist with methylation. However, a magnesium supplement may help relieve other MTHFR-related symptoms such as muscle cramps, headaches, and depression.

Does exercise help MTHFR? ›

Exercise can also aid individuals with MTHFR by boosting the detoxification process, when the heart rate is elevated, faster circulation of the blood allows for toxins to be removed quicker, one means is through sweating.

Methylenetetrahydrofolate reductase (MTHFR; EC 1.5. 1.20) plays a central role in folate and hom*ocysteine metabolism by catalyzing the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the primary circulatory form of folate which is utilized in hom*ocysteine remethylation to methionine.

Over time, the downstream effects of mutations in the MTHFR gene can put people at higher risk for many common health problems, such as preventable heart disease, colon cancer, stroke, Alzheimer's disease, and more.

Folic acid is the synthetic form of folate that is often in supplements and in fortified foods such as cereals. There is a gene, called MTHFR, that helps produce an enzyme that converts a portion of folate and folic acid into folinic acid.

MTHFR mutations reduce your ability to methylate, so one of the best things you can do is supplement with the three main vitamins needed for methylation: folate in its pre-methylated form (5MTHF), B6 in its active form, and B12 in its active form.

Some of the best multivitamins for MTHFR mutation are methyl folate, active B12 and B6, vitamin D3, and glutathione. Vitamin B12 shots help combat the side effects of MTHFR mutations. Genetic testing can help identify MTHFR mutations, and a simple blood test can reveal nutritional deficiencies.