Understanding the MTHFR Gene Variation
It’s important to understand what it means to have the MTHFR gene variation, in order to determine if it may be contributing to some of the symptoms you’ve been experiencing.
The gene involved is the MTHFR (Methylenetetrahydrofolate Reductase) gene. This gene codes for the MTHFR enzyme, the enzyme that converts the amino acid homocysteine to methionine, a building block for proteins.
We receive two copies of the MTHFR gene from each parent. This means we may end up with two copies of the “normal” MTHFR gene, one “normal” copy and one copy with the genetic variant, or both copies with the genetic variant. I’ll expand a bit about two different genes that carry MTHFR variations, and I’ll break down the different test results and what they can mean, further down in the article.
Individuals with one or two copies of the genetic variation and low activity of the MTHFR enzyme may present with elevated homocysteine levels, which have been associated with inflammation, heart disease, pregnancy complications, and even miscarriages. [2] It has also been associated with higher rates of Down syndrome and birth defects in offspring of those with the MTHFR gene variation, as well as other issues that may manifest later on in life, such as an increased risk of blood clots and a higher risk of certain cancers.
Genetic Effects on Nutrient Extraction
The genetic variation can also play a role in vitamin deficiencies. Specifically, elevated homocysteine levels often caused by the MTHFR gene variation have been associated with nutrient deficiencies in vitamins B2, B6, B9 (folate), and B12. [8]
It may seem like common sense to take a supplement to address a deficiency in folate, but not all sources of vitamin B9 are created equally. While vitamin B9 can be found naturally in foods in the form of folate, it can also be found in the form of folic acid, a manufactured and synthetic version of folate that is present in most bargain-priced multivitamins, as well as often added to processed foods.
Unfortunately, synthetic folic acid can be highly problematic for individuals with the MTHFR gene variation, as they may have a difficult time processing this form of folate. Some professionals claim that this type of synthetic folate may even cause a build-up in the body, leading to toxicity.
In my decade of studying the root causes of illness, I am often shocked by how well-meaning public health initiatives end up harming many individuals to help the masses. (I’m talking about you, fluoride programs, iodine fortification of salt, and of course, folic acid fortification!)
Studies have shown that folic acid supplements can increase one’s risk of cancer, including prostate cancer — one more reason to ditch processed foods and multivitamins.
About MTHFR
MTHFR is an enzyme that converts folate from your diet into an activated form of folate called 5-Methyltetrahydrofolate. When this happens your body is able to use this form of folate to produce hundreds of chemical reactions. That is vitally important to have good health. Some of these chemical reactions include:
- The ability to make & use active folate
- The ability to use other vitamins, minerals, essential fatty acids, and amino acids that work with folate
- The ability to recycle homocysteine to maintain proper methylation vital to good health
- The ability to produce essential neurotransmitters vital for good mental health
- The ability to make proper DNA, RNA & SAMe
- Ability to form red blood cells and white blood cells
- And many more chemical reactions that lead to healthy outcomes
The key thing to understand here is that MTHFR is involved in methylation. Methylation is a very important process in the body that is vitally key if you want to be well and stay healthy. If your methylation process has problems as in the case of those with MTHFR gene mutations then your risks of health problems and serious disease are much higher.
MTHFR methylation
MTHFR Methylation is a process or combination of all the actions and reactions of the above examples that show the various abilities to have and use methyltetrahydrofolate properly and all of these examples help your body to do any of the following by a process of communication that tells your body what to do and when to do it such as:
- Tell your various genes when to turn on and when to turn off
- Tells your body when to turn on or off your stress response
- Turns on and or off your various enzymes.
- Helps your body to detoxify properly
- Controls how our neurotransmitters work
- Helps produce energy
- Produces powerful antioxidants that prevent aging
- Tells your body when and where to repair tissue damage
- Turns off inflammation
- And many more communications that control our overall health and well-being
So as you can see, at a deep level MTHFR is a powerful enzyme that is vital to many areas of your health that can influence your life and health in major ways. Those who have this enzyme working properly are typically much healthier because they are able to carry out these bodily functions normally.
What is methylation?
Methylation is one of the most important processes that happen in your brain and body. It makes everything work properly and without the process of methylation, you cannot live. Methylation is the process of maintaining the balance of literally thousands of neurotransmitters, hormones and other biochemicals essential to good health and life.
Methylation is so important in fact that it is responsible for millions of “methylation” reactions every second! So its really important to understand that your ability to “methyl-ate” is a vital factor in determining your ability to achieve good health and well being both mentally and physically. Methylation has many jobs to do, it does this by supplying the body and its various system with what they need to do their job at optimal levels, so when your methylation is out of balance this can set off a chain reaction of problems that can literally mean the difference between life and death.
Methylation is produced in the body to make methyl groups, these groups are then “donated” to the parts in the body and mind that need them for processing their many functions such as:
- Turn genes on and off
- Building & repairing DNA and RNA
- Reduce the aging process
- Reduce your risk of heart attack and strokes by 75%.
- Balance your homocystenine
- Deal with stress
- Maintain good mental health
- Process hormones
- Detoxify chemicals & heavy metals
- Fighting infections
- Building immune cells
- Balance histamine
- Support neurotransmitters to prevent depression, anxiety, and mental health disorders
- Produce powerful antioxidants
- Works with vitamins, minerals, essential fats, and amino acids
Symptoms of methylation imbalances
So, how do you know if your methylation is working properly? Signs and symptoms of methylation problems can tell us if we have imbalances in methylation. The key to good methylation is balance so when your methylation is having some trouble maintaining this balance certain symptoms can appear. When methylation becomes unbalanced you can end up usually in one of two categories, you can have symptoms of under-methylation from not making enough methylation, and or you can have symptoms related to over-methylation. Some people have symptoms of both under and over-methylation.
Under-methylation symptoms
- ADD/ADHD
- Addictive) behavior
- Allergic reactions
- Bulimia
- Alzheimer’s disease
- Anxiety
- Cancer
- Autism
- Autoimmune disease
- Bipolar disorder
- Aging
- Anorexia
- Chronic degenerative diseases
- Cardiovascular disease
- Delusions
- Cleft palate
- Diabetes
- Chronic fatigue
- Down’s syndrome
- Depression
- Poor detoxification
- Fibromyalgia
- Headaches
- Infertility
- Joint stiffness, pain, swelling
- Insomnia
- Muscle pains
- Low neurotransmitters
- Obesity or weight gain
- Obsessive-compulsive disease
- Phobias
- Oppositional defiant disorder
- Pain
- Psychosis
- Schizophrenia
- PCOS
- Recurrent pregnancy loss, miscarriage
- Thyroid dysfunction
Over-methylation symptoms
- Headache
- Migraine
- Rashes
- Irritability
- Increase in anxiety
- Joint pain
- Muscle pain
- Insomnia
- Depression (Maybe suicidal)
- Nausea
- Seizures
- Schizophrenia
- Vomiting
- Stomach pain
- Sweating
- Rash
- Hypokalemia
- Heart palpitations
Causes of methylation imbalances
The are many things that can interfere with methylation, lifestyle, nutrition, the environment you live in, and genetics play a big role in how well you methyl-ate or not. The main causes of methylation include:
- Genetic mutations such as in MTHFR and other associated gene mutations
- MTHFR Gene mutations C667T & A1298C
- Nutritional problems
- Stress (Mental & physical)
- Environmental chemicals & toxins
- Heavy metal toxicity
- Medications (antacids, methotrexate, metformin, nitrous oxides, antiseptics)
- Reduced hydrochloric acids for digestion
- Aging (as we age methylation can reduce)
- Diet
- Alcohol
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