What is MTHFR and the MTHFR Gene?
The MTHFR gene mutation, or short for methylenetetrahydrofolate reductase, is a form of genetic polymorphism or genetic flaw or variance. About one half of the total population or one in every two persons may have this genetic variance.
MTHFR is actually an enzyme that makes folate (vitamin B9) usable by the body. It does this by adding something called a methyl group. The MTHFR gene produces the MTHFR enzyme which functions for properly utilizing vitamin B9.
The MTHFR enzyme also plays and important role in converting homocysteine to methionine, which is an amino acid that our bodies need for proper metabolism, creation of glutathione, and muscle growth.
The MTHFR enzyme from the MTHFR gene is also involved in the process of methylation, a process of enzyme activation that enables our bodies to more efficiently detoxify toxins, metals, and other wastes products. Thus, people with MTHFR mutation can have difficulties in eliminating toxic wastes from their bodies.
How to Get Tested for MTHFR Gene Defects or Mutation
Many different symptoms can occur in association with an MTHFR gene defect. Further, these symptoms vary greatly from person to person. Thus only a medical test (blood test or saliva test) can help verify the presence of a gene defect and which type.
You can speak with your physician about ordering this test, but keep in mind that not all doctors are expertly versed MTHFR issues. It may be wise to get a second or even multiple opinions.
So what Happens If You Have a Defect in the MTHFR Gene?
The MTHFR genetic “defect” or gene mutation is not really dangerous as is; however, as with any form of genetic variance, it does have possible effects on your health. Knowing how the MTHFR gene can affect you is the knowledge you need in order to protect your health.
Since people with defective MTHFR genes have 20 to 70 percent (or higher) inability to produce the MTHFR enzyme, this makes it more difficult for them to break down and eliminate substances like synthetic folic acid, heavy metals, and toxins. And since they cannot convert folic acid into its usable form, this can cause build up inside the body, which, in turn, can raise homocysteine levels. High homocysteine levels gives a person a higher risk of cardiovascular disease, difficult pregnancies, birth defects, inflammation, elimination/detoxification issues, and folate B6 and B12 deficiencies.
People with the MTHFR gene, in fact, have difficulties processing folic acid vitamin that is present in many processed foods and available in most cheap supplements. Health care professionals caution that this type of folic acid may cause build-up in the body which often leads to toxicity. Some research studies even show that folic acid supplements may increase cancer risk for people with MTHFR genes, especially those who eat loads of processed foods.
MTHFR gene defect also affects the conversion of glutathione. The body’s natural process of methylation and homocysteine conversion into methionine plays an important role in protecting our health both physically and mentally. Methionine is essential for producing glutathione, which is our body’s primary antioxidant and which we need to eliminate bodily waste. With an MTHFR gene defect, this becomes a problem.
Our livers also convert methionine into SAM-e chemicals which help metabolize serotonin, dopamine, and melatonin brain chemicals. Thus, a defect in a person’s MTHFR gene may lead to higher levels of homocysteine in the bloodstream, thereby affecting the person’s mood and mental health negatively.
Several naturopathic doctors like Dr. Doni Wilson assert that fogginess, fatigue, anxiety, sleep disorders, and difficulties in dealing with alcoholism and toxins may be a result of MTHFR mutation or other underlying gene mutations.
Finally, because of MTHFR mutation’s effect on methylation, it can increase general cancer risks and possibilities of Spina bifida and other fetal developmental issues. Possibly, it can also worsen or contribute to other health-related concerns like autoimmune disorders and other conditions.
Other Effects on Health
Because of the MTHFR defect or mutation’s inability to process vitamin B9 (folic acid), if a woman or mother has a severe defect in her MTHFR gene, then it can have harmful effects to her developing fetus, including brain defects or anencephaly.
In other people, folate deficiency can also lead to lethargy, impaired cognitive function, and mood issues, while in some, inadequate methylation because of MTHFR gene variance develop migraines as well as mental disorders (acute depression, schizophrenia, bipolar disorder, etc).
And because a defect in the MTHFR gene can also cause abnormally high levels of homocysteine in the blood, a person may develop ischemic stroke, atherosclerosis, glaucoma, high blood pressure, and a host of other cardiovascular-related illnesses.
MTHFR defects are also linked to the development of certain cancers because poor methylation that leads to toxic buildup and free radical damage. For example, a person with an MTHFR defect may develop hypothyroidism because the thyroid gland produces hormones associated with the subject MTHFR gene.
Dr. Ben Lynch of MTHFR.net has compiled a comprehensive list of several health conditions he was able to link with the MTHFR gene defect or mutation:
- Acute Lymphoblastic Leukemia
- Addictions: drugs, smoking, alcohol
- Behcet’s Disease
- Bipolar disorder
- Bladder Cancer
- Blood clots
- Cervical dysplasia
- Chemical Sensitivity
- Chronic Fatigue Syndrome
- Congenital Heart Defects
- Colorectal Adenoma
- Decreased telomere length
- Deficits in child cognitive development
- Depression among Post-Menopausal Women
- Differentiated Thyroid Carcinoma
- Down syndrome
- Esophageal Squamous cell carcinoma
- Essential Hypertension
- Gastric Cancer
- Heart Murmurs
- High homocysteine
- Idiopathic male infertility
- Increased bone fracture possibilities among post-menopausal women
- Infant depression via epigenetic processes as caused by the mother’s depression
- Irritable Bowel Syndrome
- Ischemic Stroke in Children
- Low HDL
- Methotrexate Toxicity
- Midline Defects
- Migraines with aura
- Multiple Sclerosis
- Myocardial Infarction (or Heart Attack)
- Nitrous Oxide Toxicity
- Oral Clefts
- Parkinson’s Disease
- Placental Abruption
- Post-menopausal breast cancer
- Potential drug toxicities: anti-epileptics, methotrexate
- Premature Death
- Primary Closed Angle Glaucoma
- Prostate Cancer
- Pulmonary embolisms
- Rectal cancer
- Shortness of Breath
- Spina bifida
- Tetralogy of Fallot
- Tight Anal Sphincters
- Tongue Tie
- Type-1 Diabetes
- Unexplained Neurologic Disease
- Vascular Dementia
Different Types of MTHFR Gene Mutations
Several different possibilities may occur in terms of MTHFR gene mutations—the world of science and medicine is constantly working hard to understand them all. Several common types of MTHFR gene mutations can actually occur because these types of mutations are based on specific variations in the genes passed on to the individual from each of his/her parents.
To summarize, if both parents are able to pass on healthy genes, the person will have no MTHFR mutation at all, but if one parent passes on a mutated gene, despite the other parent passing on a healthy gene, the person can have several variations of the MTHFR defect or mutation. If, on the other hand, both parents pass on a mutated gene, even more possibilities can happen.
C677T and A1298C are the two most problematic gene mutations that can occur, as denoted on their placement of the mutation on the MTHFR gene. Various different combinations of these genes, which are passed on from either or both parents, are associated with the most common forms of MTHFR gene defect.
MTHFR Gene Tips / Remedies
Whether you have been tested to have the MTHFR gene or are having similarly related symptoms, you can take a few steps to help protect your health.
First, address any nutritional or dietary deficiencies you may have. Maintain a natural diet with folate such as asparagus, spinach, beans, chickpeas, and broccoli, and avoid the folic acid form of folate. Also avoid exposure to environmental toxins that can take a toll on your liver, and undergo occasional liver cleanses to help facilitate the removal of toxins and wastes from your system.
If you are suffering from a methylation defect, you can take methyl folate supplements, which you can ask your local doctor about for more information.
Although it is not possible to change the components of your gene, you can do several means to help prevent or minimize potential problems that may occur. You can also help prevent these issues from occurring in children later on (or treat them specifically during and before a mother’s pregnancy).
Research is still developing on concerns relating to the MTHFR gene, but among the tips or remedies that are most useful are the following:
- Avoid processed foods. Processed foods don’t just contain chemicals or artificial additives; many of them also have synthetic folic acid.
- Eat loads of dark leafy greens. Dark leafy greens have the ethylated forms of natural folate which a person with a MTHFR gene needs. (This info is according to Dr. Ben Lynch.) Try to incorporate green vegetables especially leafy greens in each of your every day meals.
- Do not take anything with Folic Acid (synthetic form of folate). Again, folic acid or synthetic folate cannot be processed by people with an MTHFR gene defect. For them, this can be highly toxic. Avoid any health supplements that contain folic acid and take only L-MTHF forms of folate (methylated forms) which the body can utilize. You may also take methyl-B12 supplements which is claimed to help the body use up L-MTHF.
- Avoid foods or items that can block out or deplete your folate levels. Certain medications like antacids as well as hormonal contraceptives can interfere with your body’s folate. Antacids are said to interfere with the absorption vitamin B-12.
- Focus on your gut’s health. Because your body has an impaired ability to use up certain nutrients from food and/or supplements, it is very important to take care of your gut health as well. Doing so will help your body absorb nutrients better and more effectively. Avoid using vegetable oils, refined sugars, and processed grains; and also support your gut health by eating fermented foods and using homemade sauces, broths, etc. Doing these things also help avoid candida bacteria, which usually worsen MTHFR related illnesses.
- Avoid environmental toxins. Since MTHFR gene defect or mutation causes impaired ability to dispose or eliminate toxins from the body, you should avoid chemicals such as those in antibacterial soaps, cleaning products, beauty supplies and even plastic products and scented candles. It also helps to filter both your drinking and shower water and use air-purifying indoor plants and/or use other methods for cleaning indoor air.
- Avoid heavy metals. Heavy metals found in food or diet and/or environment are much more difficult to release from the body for people with a MTHFR gene defect.
- Help out your body. Help support the elimination process of your body, such as doing regular detoxification through sauna, detox baths, dry brushing of the skin, regular exercise (sweating), and drinking sufficient amounts of water for natural detox. You may also try other remedies or solutions for detoxifying like foot soaks, using detox mud shampoo/soaps, or even detoxifying your armpits.
Science and conventional medicine wants us to believe that we merely are byproducts and victims of our genes, however this is not entirely true. Genetics do play a role in initiating and developing certain types of diseases, but our lifestyle choices too can determine how (or if) these illnesses are manifested in our bodies.
By simply learning and applying some healthier lifestyle choices, you can gain the opportunity to be more in control of your genetics and your overall health.