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The MTHFR gene -

The MTHFR gene provides a blueprint for the cells to make an enzyme called methylenetetrahydrofolate reductase (MTHFR).

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Folic acid conversion -

This enzyme is what takes folic acid (vitamin B9) from your diet, converting it into a form that's biologically active: 5-MTHF, or 5-methyltetrahydrofolatemethyl-folate.

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Methylation -

A process known as methylation is also driven by methyl-folate, which is responsible for multiple bodily functions.

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Methylation -

The process of methylation, which the gene is responsible for, metabolizes nutrients to make vitamins, minerals, and proteins in your body.

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A chemical process in the body -

Methylation is a chemical process occurring one billion times per second. It affects just about every cell, system, and process in the body.

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Activated form of folic acid -

Methylation requires the activated form of folic acid, known as folate (5-MTHF), in order to function properly.

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Activated form of folic acid -

This activated folate transfers molecules between groups of different compounds to trigger numerous everyday biological functions.

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Understanding the MTHFR gene mutation -

Folate also helps with the conversion of amino acid homocysteine into another amino acid: methionine. Methionine production prevents the harmful buildup of homocysteine in the blood, and formulates SAM-e.

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SAM-e -

SAM-e travels around the body and regulates the activity of our cardiovascular, neurological, reproductive, and detox systems.

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Inflammation -

However, those with the MTHFR mutation aren't able to convert folate to its active form. This means methylation is slowed and there is a buildup of homocysteine in the blood, as well as inflammation.

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Symptoms -

The MTHFR gene mutation affects everyone differently, and has been shown to be associated with numerous health conditions including cardiovascular disease and high cholesterol, ADHD, autoimmune disease, chronic fatigue, colon cancer, and thyroid issues.

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Mental health -

Methylation is also connected to the formulation of mood-regulating neurotransmitters. Mental health conditions like depression, anxiety, and schizophrenia may be more likely with the mutation.

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Chronic health issues -

With this gene mutation, symptoms can range from barely there to severe, chronic health issues. The greater the amount of variations you have to your MTHFR gene, the lower your methylation function will be.

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Chronic health issues -

It's also important to remember that some chronic health issues also cause high levels of homocysteine in the blood independently of the MTHFR mutation, such as hypothyroidism.

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Reproductive health -

Recent research has revealed that MTHFR genetic mutations and polycystic ovarian syndrome (PCOS) may be linked. Decreased efficiency of the folate/homocysteine pathway appears to be prevalent in women with PCOS, and PCOS is often accompanied by high homocysteine levels.

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Reproductive health -

Recurrent miscarriages and neural tube defects are potentially associated with MTHFR. 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.

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Thrombosis -

Results of some studies suggest that high levels of homocysteine in the blood may contribute to risk of cardiovascular disease by damaging blood vessel walls and promoting formation of plaque (atherosclerosis) and inappropriate blood clots.

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Check your supplements -

If you think you could have the mutation, check if your current supplements contain folic acid. If they do, stop taking them or switch to another brand.

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Bioavailable folate -

In general and especially when you have a mutation in the MTHFR gene, it is preferable to supplement with 5-MTHF (5-methyltetrahydrofolic acid ), the already bioavailable form of folate.

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Detoxification pathways -

When methylation is reduced in the body, detoxification is slower. It's important to support your body's detoxification process if you have the gene mutation, and there are numerous ways to do this.

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Enhanced detoxification: reduce toxic load -

Reduce your body's exposure to toxins, like chemical house cleaners. They can place a burden on the methylation process, acting as endocrine disruptors.

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Enhance detoxification: exercise -

Vigorous, regular exercise helps support your body to detox faster. This is because as you sweat, toxins are released.

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Enhance detoxification: cut down on/eliminate alcohol -

Alcohol puts pressure on the liver and the body, by demanding detoxification when it's present in the blood. Moderating (or cutting out) alcohol will help your body's detox pathways function more efficiently.

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Enhance detoxification: good gut health -

Gut health is extremely important, and this is especially true with the MTHFR mutation. The gut is one of the body's biggest detoxifiers.

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Enhance detoxification: good gut health -

Staying hydrated, cutting out processed foods, and eating a diet rich in probiotics will help stimulate bowel movements, which helps remove waste/toxic load from the body.

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Enhance detoxification: balanced diet -

Eating a balanced diet, containing folate-rich sources of nutrients, as well as antioxidants, healthy fats, protein, and fiber, will help support the body's detox process.

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Manage stress -

Since an imbalance of neurotransmitter levels is more likely in those with MTHFR mutations, high stress can exacerbate symptoms, making someone more moody and irritable.

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Manage stress -

Ways to combat this include a regular meditation practice, journaling, or spending time in nature. It's important to find an activity that helps you decompress, keeps you grounded, and works for you on a daily basis.

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Testing -

A genetic test can determine if you have an MTHFR gene mutation or other genetic variation that's affecting your health or absorption of nutrients.

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Testing -

If you do have an MTHFR genetic variation, you could also benefit from additional tests for homocysteine levels, hormone levels, and a gut function analysis.

Sources: (GeneSight) (Testing.com) (Parsley Health) (CentreSpring MD)

See also: The most common genetic conditions in the world

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