MTHFR Gene Mutation: How to Know If You Have It and What to Do (2022)

What do chronic migraines, irritable bowel syndrome, and autism all have in common? All of these conditions can be caused by a faulty enzyme called MTHFR. While it may look like an abbreviation for a curse word, MTHFR actually stands for methylenetetrahydrofolate reductase. This little enzyme plays a very important role in the body.

MTHFR is essential for a process called methylation which plays a role in processing, metabolizing, and converting certain nutrients into active compounds that can be effectively used by the body.1

But if you have a genetic mutation in the gene that tells your body how to make MTHFR, it can cause trouble for your health. Luckily, you are not entirely at the mercy of your genetics, and there are some simple steps you can take to manage this mutation.

What is Methylation? And Why is it Important?

To understand how to manage an MTHFR gene mutation, you must first understand methylation. Methylation is a core process that occurs in all cells to help your body make biochemical conversions.

In simplest terms, methylation is the act of a single carbon atom and three hydrogen atoms (this is called a methyl group) attaching to another molecule. Conversely, when a methyl group is removed from a molecule, it is called demethylation.

When a methyl group is added or removed, it triggers the molecule to perform a specific action. Think of it as lots of tiny on and off switches in your body that control everything from your brain chemistry to your immune system. Methylation is a big deal—every cell in your body uses it and it impacts nearly every bodily function.

The methylation process plays a major role in:2

  • Cellular repair
  • Synthesis of nucleic acids, production and repair of DNA and mRNA
  • Regulation of gene expression
  • Neurotransmitter production
  • Interconversion of amino acids
  • Healthy immune system function
  • Formation and maturation of red blood cells, white blood cells, and platelet production
  • Detoxification of heavy metals, chemicals, and hormones
  • Glutathione production (glutathione is one of the major molecules in the detoxification cycle and is an important antioxidant)
  • Histamine breakdown
  • Conversion of homocysteine into methionine

One particularly important role of methylation is to methylate or activate your B vitamins. B vitamins must be converted into their active form to be used properly by our bodies. If inactivated forms of B vitamins are consumed and the body is unable to convert them, they are unable to perform their key functions in the body. This creates a deficiency and can even become toxic.

(Video) MTHFR Gene Mutation- What You Need to Know

What is an MTHFR Gene Mutation?

Your genes are like the instruction manual your body follows to perform every single biochemical function. And the role of the MTHFR gene is solely to instruct the body on how to produce the MTHFR enzyme. When your MTHFR gene is mutated, it sends out faulty instructions resulting in inadequate production of the MTHFR enzyme.

It is estimated that up to 40% of the population has an MTHFR gene mutation. But the effects of this mutation can vary greatly depending on the type of mutation a person has. There are numerous possibilities when it comes to MTHFR gene mutations, and science is still working to understand them all.

The reason there is so much variation in MTHFR gene mutation is because our parents pass on two sets of genes. So if both parents pass on a healthy gene, you won’t have any mutation at all. If one parent has a healthy gene and the other passes on a mutation, several variations of the mutated gene can show up. And if both parents pass on mutated genes, it can create a number of genetic issues.

The two most problematic and most studied mutations are known as C677T and A1298C, which refers to the placement of the mutation on the gene. The most common MTHFR gene mutations involve combinations of these two genes that are passed on from each parent:

  • Homozygous: Occurs when the same gene is passed on from both parents, meaning both parents passed on either C677T or A1298C.
  • Heterozygous: One parent passed on a healthy normal gene, but the other parent passed on a mutated gene (either C677T or A1298C).
  • Compound Heterozygous: One parent passed on C677T, and the other parent passed on A1298C.

While there are other more advanced and rarer mutations, as well as other factors that affect gene expression and methylation, these two mutations are the most common. Depending on the type of mutation and how that mutation is expressed, methylation and enzyme efficiency can vary greatly. Some individuals’ enzymes levels may only drop 10% where symptoms may not even be noticed, while others may experience severe MTHFR mutation symptoms when their levels drop as much as 90%.

What are the Signs and Symptoms of MTHFR Gene Mutation?

The type of symptoms and severity of an MTHFR gene mutation are heavily influenced by the type of mutation a person has, as well as by how much the body’s ability to carry out methylation and make MTHFR enzymes is impacted. The less MTHFR your body is able to produce, the more severe the MTHFR symptoms are likely to be. Some conditions that have been linked to MTHFR gene mutation include:3,4

  • Autism
  • Addictions: smoking, drugs, alcohol
  • Down syndrome
  • Frequent miscarriages
  • Male and female infertility
  • Pulmonary embolism and other blood clots
  • Depression and anxiety
  • Schizophrenia
  • Bipolar disorder
  • Fibromyalgia
  • Chronic fatigue syndrome
  • Chemical sensitivity
  • Parkinson’s disease
  • Irritable bowel syndrome
  • Stroke
  • Spina bifida
  • Migraines
  • Hyperhomocysteinemia
  • Breast cancer
  • Atherosclerosis
  • Alzheimer’s
  • Multiple sclerosis
  • Myocardial infarction (heart attack)
  • Methotrexate toxicity
  • Nitrous oxide toxicity
  • Autoimmunity
  • Gastrointestinal issues

How Do I Know If I Have an MTHFR Gene Mutation?

While an MTHFR gene mutation can manifest in a number of different ways, the only way to know for sure if you have the mutation is to verify your genes through a blood or saliva test. If you are concerned that you may have an MTHFR gene mutation, there are a couple of options when it comes to genetic testing.

Ask Your Doctor:

You may be able to ask your physician to order an MTHFR gene mutation testing through True Health Labs.It is important to keep in mind that not all doctors are well-versed in MTHFR issues. For this reason, it may be a good idea to seek out a functional medicine practitioner or another healthcare professional that has experience treating patients with MTHFR gene mutations.

(Video) Thyroid Update - MAJOR BREAKTHROUGH (MTHFR Gene Mutation) | Kathryn Morgan

23andMe:

23andMe is a genomics and biotechnology company on a mission to revolutionize health, wellness, and research. Through 23andMe, you can order a genetic profile directly without a physician order online for only $99. We’ve come a long way in genetic testing, making it more accessible to many people.

It is important to note that 23andMe’s genetic profile will give you all of the raw data you need to identify an MTHFR gene mutation, but they no longer offer health-related genetic reports. You can take this “raw data” and run it through a program that will interpret it for you, such as:

Natural MTHFR Treatments and Diet

Avoid Drugs That Deplete or Block Absorption of Folate or B-12:

Because one of MTHFR’s most important roles is to convert B vitamins into their active usable form, medications that impede the absorption of B vitamins can exacerbate MTHFR gene mutation. Avoid some medications that have been found to worsen MTHFR gene mutation by either depleting or blocking absorption of certain B vitamins, such as folate and vitamin B-12, include:5

  • Birth control pills
  • Methotrexate
  • Proton pump inhibitors
  • Antacids
  • Cholesterol binding drugs
  • Metformin

1. Avoid Taking Things With Folic Acid

Folic acid is the inactivated form of folate (one of the B vitamins). In order to be converted into an active usable form by the body, it must undergo methylation. Ingesting high levels of folic acid can be toxic for those with MTHFR gene mutation.

2. Avoid Eating Processed Foods

Many processed foods contain added synthetic folic acid that the body cannot process properly.

3. Load up on Leafy Greens

Leafy greens, such as spinach, kale, swiss chard or arugula, are loaded with natural methylated forms of folate that your body can more easily process.

4. Avoid Exposure to Environmental Toxins

Minimizing your toxic load is important since MTHFR gene mutation hinders your body’s ability to detox. It is impossible to entirely avoid toxins, but some ways to minimize exposure include:

  • Remove any mercury amalgams with a trained biological dentist
  • Avoid aluminum exposure in antiperspirants or cookware
  • Avoid heavy metal exposure
  • Use natural cleaning products
  • Use natural beauty products
  • Drink high-quality filtered water
  • Invest in an air purifier

5. Eat Grass-Fed and Organic Animal Products

The quality and nutritional profile of meat and other animal products drastically change depending on the diet of the animal. Toxins that animals are exposed to can be passed onto you when they end up on your dinner plate. Opt for grass-fed and organic options when possible.

(Video) The MTHFR Gene Mutation (That You Probably Have) | Dr. Ben Lynch

6. Take Your Vitamins

Since an MTHFR gene mutation hinders your body’s ability to properly convert essential nutrients, taking high-quality supplements can help counteract these effects. A good place to start is by taking the following MTHFR supplements:

  • Methyl B12
  • L-methylfolate
  • Trimethylglycine (TMG)
  • N-acetyl cysteine (NAC)
  • Riboflavin
  • Curcumin
  • Fish oil
  • Vitamins C, D, and E
  • Probiotics

It’s important to note that if you are double homozygous for MTHFR mutations, you should proceed very cautiously with methyl B12 and L-methylfolate supplementation as some people do not tolerate high doses. A good rule of thumb is to Introduce nutrients one by one and watch for any adverse reactions. Use extreme caution when supplementing with niacin, which can dampen methylation.

7. Take Time to Detox

Since an MTHFR gene mutation impairs your body’s ability to get rid of toxins, support your body in this process by incorporating gentle detox regimens several times per week. This could include:

  • Infrared sauna
  • Epsom salt baths
  • Dry skin brushing
  • Regular exercise or sweating

8. Focus on Gut Health

When your body’s ability to use certain nutrients is impaired, it is especially important to focus on gut health so your body can absorb the nutrients from food as effectively as possible. For digestive support, click here to learn more about my histamine blocker.

9. Share the Information with Family

If you have a known genetic mutation, share the information with parents, children, and other family members and encourage them to be tested too! The easiest way is to order through 23andMe for only $99 online.

Next Steps If You Have MTHFR Gene Mutation Symptoms

It is important to remember that having an MTHFR gene mutation does not necessarily cause disease, but it does make you more susceptible because it impedes your body’s ability to function properly. This is excellent news because it means YOU have the power to influence your own health.

If you have tested positive for an MTHFR gene mutation, it is vital to be proactive and take steps to minimize its impact, and the tips outlined in this article are a good place to start. From air purifiers to grass-fed beef delivered straight to your door, we’ve rounded up our favorite products and companies that can help you follow these tips and manage your MTHFR gene mutation. Check out the products we recommend here.

It’s also important to note that MTHFR gene mutation is a complex and very individualized condition. Working with a practitioner well-versed in treating patients with MTHFR gene mutations can help you navigate these complexities and develop a personalized plan of care.

(Video) A doctor's guide to MTHFR, and what you can do to boost its function regardless of your genetics.

Here is some additional reading I recommend if you’ve been diagnosed with MTHFR gene mutation:

Is Undermethylation Keeping You Down? What You Can Do

How to Choose a Good Integrative and Functional Medicine Doctor

What is Your Total Toxic Burden? How To Reduce It For Better Health

4 Detox Methods That Actually Work

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References

  1. https://ghr.nlm.nih.gov/gene/MTHFR
  2. https://www.ncbi.nlm.nih.gov/books/NBK66131/
  3. https://www.ncbi.nlm.nih.gov/pubmed/25449138
  4. http://mthfr.net/mthfr-mutations-and-the-conditions-they-cause/2011/09/07/
  5. https://livermedic.com/mthfr-what-to-avoid/

* These statements have not been evaluated by the Food and Drug Administration. The product mentioned in this article are not intended to diagnose, treat, cure, or prevent any disease. The information in this article is not intended to replace any recommendations or relationship with your physician. Please review references sited at end of article for scientific support of any claims made.

(Video) Signs Your Child Has the MTHFR Mutation

FAQs

MTHFR Gene Mutation: How to Know If You Have It and What to Do? ›

A doctor can determine whether or not a person has an MTHFR variant by reviewing their medical history, considering their current symptoms, and performing a physical examination. The doctor may recommend running a blood test to check the person's homocysteine levels.

What to avoid if you have the MTHFR gene? ›

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.

What blood test is used to detect MTHFR? ›

High homocysteine levels also have been connected to heart disease and strokes. There is a genetic test for MTHFR variations. But there's also a cheaper and more accurate way to test for whether MTHFR variations are causing disease. We simply check the levels of homocysteine in the blood.

What are the signs of MTHFR? ›

MTHFR Mutation Symptoms:
  • Depression.
  • Bipolar disorder.
  • Anxiety.
  • Schizophrenia.
  • Acute leukemia.
  • Colon cancer.
  • Cardiovascular and thromboembolic disorders.
  • Chronic pain and fatigue.

What vitamins should I take with MTHFR? ›

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.

What happens if you have MTHFR and take folic acid? ›

Folic acid: Supplementation with folic acid may compensate for the reduced MTHFR enzyme activity, leading to normal levels of the active L-methylfolate, which may have an impact on depression response. Studies investigating the effect of folic acid supplementation on depression response have produced mixed results.

Does MTHFR affect vitamin D? ›

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

Are eggs good for MTHFR? ›

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.

How serious is MTHFR mutation? ›

At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems.

Can MTHFR make you tired? ›

Symptoms Attributed To MTHFR Mutations. 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.

What are the two types of MTHFR? ›

There are two common MTHFR mutations, known as C677T and A1298C. The term MTHFR stands for methylenetetrahydrofolate reductase. MTHFR is an enzyme that breaks down the amino acids' homocysteine and folate. Homocysteine is an amino acid that works to maintain the body's cells.

How much does MTHFR test cost? ›

Using Push Health, you can easily request a MTHFR test from a licensed medical provider, get tested at a lab near you, and get results electronically. The total fees are $143.29 and include the lab order, lab fees and an electronic copy of the results.

Should I get tested for MTHFR? ›

You may need this test if: You had a blood test that showed higher than normal levels of homocysteine. A close relative was diagnosed with an MTHFR mutation. You and/or close family members have a history of premature heart disease or blood vessel disorders.

Can MTHFR cause hair loss? ›

3) To date, these is absolutely no good evidence that MTHFR polymorphisms have a clear link to genetic hair loss, telogen effluvium or scarring hair loss (scarring alopecia).

Can MTHFR cause anxiety? ›

MTHFR mutations, for which at least 24 known genetic polymorphisms have been identified, are associated with metabolic dysfunction. They play a suspected role in several physiologic symptoms—including anxiety.

Which MTHFR gene is worse? ›

Homozygous MTHFR mean you have two copies of the same mutant allele, which is considered more severe.

Is MTHFR and autoimmune disorder? ›

1 The MTHFR mutation is also believed to predispose a person to certain cancers, birth defects, and autoimmune diseases. The reason the subject remains so contentious is that much of the current evidence is either inconsistent, inconclusive, or contradictory.

How do you treat MTHFR naturally? ›

Natural treatments and ways to manage MTHFR symptoms include improving gut health, getting more natural folate from your diet, acquiring more vitamin B6 and B12, exercising, lowering intake of inflammatory foods, and managing stress.

Should you get B12 shots if you have MTHFR? ›

If you have an MTHFR mutation you are a candidate for B12 shots. Up to 60% of people have a version of this mutation leading to a decreased ability to absorb B12. For people with an MTHFR mutation, methylcobalamin (as opposed to other forms of B12) is therapeutic.

Can you drink alcohol with MTHFR? ›

The Interaction Between MTHFR and Alcohol

Numerous studies have shown that alcohol can interact with the MTHFR gene polymorphism by increasing the risk of complex diseases such as cardiovascular diseases, diabetes, and several cancers.

How serious is MTHFR mutation? ›

At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems.

What happens if you have MTHFR and take folic acid? ›

Folic acid: Supplementation with folic acid may compensate for the reduced MTHFR enzyme activity, leading to normal levels of the active L-methylfolate, which may have an impact on depression response. Studies investigating the effect of folic acid supplementation on depression response have produced mixed results.

What does it mean to test positive for MTHFR? ›

The methylenetetrahydrofolate reductase (MTHFR) gene contains the DNA code to produce the MTHFR enzyme. This test detects two of the most common mutations. When there are mutations or variations in the MTHFR gene, it can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others.

What does it mean to be positive for MTHFR? ›

What do the results mean? Your results will show whether you are positive or negative for an MTHFR mutation. If positive, the result will show which of the two mutations you have, and whether you have one or two copies of the mutated gene.

Find out if you have MTHFR symptoms. Over 50% of society have MTHFR gene mutation symptoms, see if you have any of these symptoms

There are many MTHFR gene variants with the main two mthfr being tested including the two common – one copy MTHFR C677T & one copy MTHFR A1298C.. Genetic testing of an mthfr variant can be done by us using our genetic testing lab tests or we can establish deeper level problems associated with mthfr using your ancestry or 23andme raw data genetic testing which contain hundreds of genes.. Some of the signs of a folate (vitamin b9) deficiency from methylenetetrahydrofolate reductase deficiency from mutations c677t and a1298c include but are not limited to anemia, eczema, cracked lips, prematurely greying hair, anxiety, tension, poor memory, lack of energy, blood clots, poor appetite, stomach pains, depression, neural tube defect infertility, blood cells that are odd shaped and misarrange.. Further elevated homocysteine in their blood or imbalanced levels of homocysteine, elevated folate levels on a blood test can be the result of dysfunctional MTHFR genes which vary from person to person.. Also for each person with the MTHFR mutation the symptoms can appear differently depending on which MTHFR mutation or gene mutation you have and how it affects you personally.. Flaky skin Headaches Homocysteine levels (high or low) Imbalanced levels of homocysteine homocystinuria due to poor methylation homocystinuria due to methionine metabolism problems Inability to exercise Infrequent dream recall Insomnia Irritability Lack of energy Migraines Muscle cramps Muscle tremors Nausea Nervousness Neural tube defect Oversensitive mouth to heat or cold Poor concentration Poor appetite Pale skin Poor hair condition. Alcohol withdrawal seizure (muscle tension after alcohol withdrawal) Autism Increased risk of blood clots Cardiovascular disease or Coronary artery disease: thromboembolism, heart disease, atherosclerosis, and myocardial infarction Colorectal neoplasias Common MTHFR anxiety disorder Dementia and memory loss Depression Anxiety and or Irritability Developmental delays Elevated or low homocysteine levels Hypertension High homocysteine levels or low homocysteine levels Increased breast cancer risk (women >55 years of age) Infertility & miscarriage Methylenetetrahydrofolate reductase deficiency Neural tube defects and other birth defects Peripheral neuropathy Reduced lean body mass and increased body fat Schizophrenia Stroke And hundreds more health issues. When this cycle is interrupted by MTHFR gene variants there can be many symptoms or conditions as a result including imbalances in levels of homocysteine including high homocysteine levels and or low homocysteine levels.. One of the other indicators of having one or more of the MTHFR gene mutations is the inability to fall pregnant, mthfr mutations are often a big part of having a history of miscarriage or a family history of miscarriage.. Folate or folic acid plays a significant role in pregnancy and developmental problems, for those that have active MTHFR variants will often have an inability to properly use folate, a mutation may lower the conversion of folate to “active” folate.. People with MTHFR mutations and or an MTHFR gene mutation have a greater chance of becoming mentally ill.

40% of all people carry an MTHFR gene mutation, putting them at higher risk for preventable heart disease, colon cancer, stroke, and Alzheimer's disease, and more.

The more variations you have, the more issues your body will have with methylating.. MTHFR mutation symptoms also depend on which variant of the mutation you have and whether the variations affect both of your MTHFR genes.. Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptoms, and optimize your overall health.. Consuming more folate in your diet may aid with methylation.. Vitamin B12 can be supplemented easily without a prescription, whether as isolated B12 or present in multivitamins and B complex vitamins.. Tips to improve detoxification include: Eat a high fiber diet (30-50 grams per day).. Eat anti-inflammatory foods such as vegetables, well-sourced protein, healthy fats, and fruits.. In fact, high levels of stress can exacerbate MTHFR mutation symptoms.. Additional supplements that help support this genetic variant include magnesium, vitamin D, and vitamin B6.. Healing and supporting your gut is critical to improving methylation and bringing your body back to optimal overall health.. To improve gut health and digestion , these are some of the best changes you can make to your diet:

This test looks for mutations in the MTHFR gene. The MTHFR gene helps breaks down an amino acid called homocysteine. If there is a mutation, homocysteine can build up in the body and cause a variety of health problems. Learn more.

You had a blood test that showed higher than normal levels of homocysteine A close relative was diagnosed with an MTHFR mutation You and/or close family members have a history of premature heart disease or blood vessel disorders. Some health care providers choose to only test for homocysteine levels, rather than doing a MTHFR gene test.. MTHFR Mutation; [updated 2017 Nov 5; cited 2018 Aug 18]; [about 2 screens].. Newborn Screening Tests For Your Baby; [cited 2018 Aug 18]; [about 3 screens].. Test ID: MTHFR: 5,10-Methylenetetrahydrofolate Reductase C677T, Mutation, Blood: Clinical and Interpretive; [cited 2018 Aug 18]; [about 4 screens].. Gaithersburg (MD): U.S. Department of Health and Human Services; Homocystinuria due to MTHFR deficiency; [cited 2018 Aug 18]; [about 2 screens].. Gaithersburg (MD): U.S. Department of Health and Human Services; MTHFR gene variant; [cited 2018 Aug 18]; [about 2 screens].. Bethesda (MD): U.S. Department of Health and Human Services; MTHFR gene; 2018 Aug 14 [cited 2018 Aug 18]; [about 3 screens].. Bethesda (MD): U.S. Department of Health and Human Services; Blood Tests; [cited 2018 Aug 18]; [about 3 screens].. Test Center: Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis; [cited 2018 Aug 18]; [about 3 screens].

MTHFR gene mutations are linked to many diseases to varying degrees, including heart disease, birth defects, Alzheimer's, cancer, and hypothyroidism.

MTHFR mutation—changes to a gene linked to an increasing number of medical conditions, including thyroid disease —has become a controversial topic among scientists.. While a number of smaller studies have linked certain MTHFR variants (known as polymorphisms) to low thyroid function ( hypothyroidism ), there remains much that we do not know about how and how much the mutations contribute to the development and/or severity of a disease.. An MTHFR mutation is simply an error in the MTHFR gene that causes it to malfunction.. Depending on the genetic variant, a person may either have normal or elevated levels of homocysteine in their blood or urine.. Conditions associated with hyperhomocysteinemia include:. With all of this being said, it's important to remember that having an MTHFR mutation doesn't mean that you will develop a disease or pass one to your baby.. The risk that parents with known MTHFR mutations will have a baby with a neural tube defect is extremely low, roughly 0.14 percent, according to data from the National Institutes of Health.. A test, called the MTHFR genotype, may be ordered if you have excessively high levels of homocysteine with no known cause.. The aim of the test is not to screen for diseases but rather to identify if an MTHFR mutation affects how your body process folate.. National Center for Advancing Translational Sciences.. MTHFR gene variant.

Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia).

Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia).. A common genetic variant in the MTHFR gene is a 677C>T polymorphism ( NM_005957.4 :c.665C>T, rs1801133 ).. Until recently, it was thought that MTHFR deficiency, by causing elevated homocysteine levels, led to an increased risk of venous thrombosis, coronary heart disease, and recurrent pregnancy loss ( 8-11 ).. However, more recent analysis has not found an association between elevated homocysteine levels and the risk of venous thrombosis or the risk of coronary heart disease ( 12 ).. Genetic testing of the MTHFR gene may be used to confirm the diagnosis of an inherited hyperhomocysteinemia caused by MTHFR deficiency.. However, a 2013 Practice Guideline from the American College of Medical Genetics and Genomics (ACMG) states that there is growing evidence that “ MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia” ( 4 ).. In an infant or child in whom autosomal recessive severe MTHFR deficiency is suspected, tests for plasma homocysteine and serum amino acids levels would be expected to show a pattern of extremely elevated homocysteine and low methionine.. MTHFR polymorphism genotyping should not be ordered as part of the clinical evaluation for thrombophilia or recurrent pregnancy loss. Individuals who are TT homozygous with normal homocysteine levels do not have an increased risk of venous thrombosis or recurrent pregnancy loss, according to recent evidence.

Put your DNA raw data to good use. You have close 700,000 genetic markers in your DNA raw data. Ancestry reports use only 0.01% of this information. There are free and paid tools that can help you tap into this source to provide you with lots of interesting and meaningful information. In this article we […]

Here is the list of all possible reports, health, and ancestry, that you can by letting third-party raw data analysis tools to browse your raw data:. Nutrition report Fitness report Health report Allergy report Skin report Carrier Status report Breast Cancer and BRCA report Methylation and MTHFR report Personalized Medicine report Gene Sleep Report American College of Medical Genetics & Genomics (ACMG) Traits and Personality report. There are companies like Xcode Life and others that specialize in providing you various reports based on your raw data from ancestry data providers such as 23andMe, AncestryDNA.com, or Family Tree DNA (FTDNA).. [table “” not found /] Xcode Life is a global genetics and bioinformatics company that specializes in 23andMe raw data analysis, but also analyzes raw data from all major international data providers such as Family Tree DNA (FTDNA), AncestryDNA, and Helix among several others.. Genetic genie provides a free methylation and detox report after 23andMe raw data analysis.. Livewello generates health reports from raw data issued by laboratories including 23andMe, AncestryDNA.com, Gene By Gene, National Geographic, BioCore, and Family Tree DNA (FTDNA) for raw data analysis and interpretation.. However, they accept raw data only from 23andMe, so if you have raw data from other companies you need to spend $99 extra for a Nutrahacker report.. They provide DNA nutrition reports and DNA fitness reports or a diet and fitness combination report.. They do not provide health reports but offer a variety of personalized wellness reports based on your raw data.

Learn about the HbA1c test, also called glycated haemoglobin and haemoglobin A1c, used to screen for and diagnose diabetes and prediabetes. Understand what to expect from the test, how to interpret results.

Looking for Test Results?. Reference ranges are dependent on many factors, including patient age, sex, sample population, and test method, and numeric test results can have different meanings in different laboratories.. What does the test result mean?. If you have diabetes and your HbA1c is below 48 mmol/mol it is likely that your diabetes is well controlled.. Are all HbA1c tests the same?

Find out why folate is important for the human body, and learn how it can help reduce heart disease, cancer risk, and more.

Food manufacturers add folic acid, the man-made version of folate, to foods to fortify them with this important vitamin.. Because about half of pregnancies in the U.S. are unplanned, it's recommended that women of reproductive age get 400 micrograms of folic acid each day in addition to consuming foods with folate.. Getting enough folate in your diet may reduce the risk of getting certain types of cancers .. Additionally, babies of pregnant women who have the MTHFR gene mutation may be at a higher risk of neural tube birth defects.. Doctors recommend that those with an MTHFR gene mutation supplement with folic acid to both reduce homocysteine levels and reduce the risk of neural tube birth defects.. While supplementation of folate can reduce the risk of certain cancers, it can also lead to an elevated risk of prostate cancer .. Folic acid may cause some mild to moderate side effects, including:. Slideshow Lose Weight Without Dieting. Slideshow Fat-Fighting Foods

Women who experience the loss of a baby in her pregnancy is devastating. Here are the signs and what to expect when having an early miscarriage.

So, what is an early miscarriage, exactly?. If a miscarriage occurs in the first 12-14 weeks of pregnancy, it’s referred to as an early miscarriage.. Most women won’t have any pregnancy symptoms this early and have an early miscarriage without realising they were pregnant.. Most women, especially during early pregnancy, will experience miscarriage similar to a heavy period, with slightly more cramping and bleeding than usual.. A missed miscarriage can take longer to begin naturally (3-4 weeks) and you may need to discuss further treatment options with your care provider if the pregnancy tissue doesn’t pass after this time.. Experiencing an early miscarriage is both a physical and an emotional experience.

Methyl B12, or methylcobalamin, is an active form of vitamin B12 that's easier for your body to absorb and use, especially if you have a methylation defect.

Methyl B12 is a vitamin B12 supplement that's already in an active form that your body can use.. Vitamin B12 supplements come in several different forms, but there's one type, methylcobalamin, or methyl B12 , that's more easily absorbed by the body, especially if you have trouble with a body process called methylation.. According to Medical News Today , your body creates millions of new red blood cells every minute; and without adequate amounts of vitamin B12, these cells aren't produced properly.. When you eat foods that contain B12 or take a vitamin B12 supplement that's not methyl B12, your body takes it from an inactive state and turns it into a version of the vitamin that's biologically available .. Among a host of other problems, when you have a methylation defect, and your methylation system isn't working properly, you're generally not able to convert synthetic forms of vitamin B12 into forms that your body can use.. You just have a problem converting inactive forms of vitamin B12, like cyanocobalamin, to active forms that your body can actually use.. Because of this, people with a methylation defect may have normal levels of vitamin B12 in their blood, but their bodies can't effectively use it.. For this study, researchers followed the vitamin B12 status of an 83-year-old woman who was experiencing several symptoms of severe vitamin B12 deficiency, such as cognitive impairment, fatigue, psychosis, paranoia and insomnia, even though the levels of B12 in her blood were normal.. However, the Linus Pauling Institute notes that some people with severe deficiency or pernicious anemia may need to take as much as 2,000 micrograms per day .

Describes how the homocysteine test is used, when a homocysteine test is ordered, and what the results of a homocysteine test might mean

D. (2004 July 26, Updated).. Genetics Home Reference, Homocystinuria [On-line information].. (Updated 2008 July).. [On-line information] Available online at http://familydoctor.org/online/famdocen/home/articles/249.html.. Genetics Home Reference [On-line information].. Homocysteine, Folic Acid and Cardiovascular Disease.. Laboratory Medicine Practice Guidelines: Emerging Biomarkers for Primary Prevention of Cardiovascular Disease and Stroke (2009) Homocysteine and Cardiovascular Disease Risk.. (Updated 2010 July).. (Updated January 6, 2013) National Newborn Screening and Genetics Resource Center.. (Updated May 26, 2013) The Screening, Technology And Research in Genetics (STAR-G) Project, Homocystinuria Factsheet.

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