February 18, 2021

Gene mutation may seem like something you find in fiction novels and movies.  However, they are more commonplace than you’ve previously imagined. Our focus on this post is the MTHFR gene mutation- a prevalent gene mutation linked to many health/mental health conditions.

We would be evaluating the variants of the gene, linked health/mental health conditions, symptoms, diagnosis, and methods to treat MTHFR gene mutation.

Meanwhile, the norm would be not to pay close attention to gene mutation topics because many sci-fiction movies link the idea to aliens or some persons with metaphysical abilities. Well, discard that idea because some of your health conditions, including mood changes and fatigue, might just be caused by an MTHFR gene mutation.

Interesting right? It gets more thrilling as you read. 

What is MTHFR Gene Mutation?

MTHFR is an abbreviation for methylenetetrahydrofolate reductase (Well, don’t worry, we will use the acronym throughout the article to save you the mental exertion).

MTHFR is the gene responsible for producing enzymes that breaks down homocysteine (the amino acid the body uses to make protein) and folate (vitamin B12 and B9) via a process called methylation.

The MTHFR gene has the potential to mutate enough that it alters the genetic message responsible for methylation, distorting the overall functionality and performance in breaking down homocysteine and folate. Thus, the condition MTHFR gene mutation.

MTHFR gene mutation first links to increased homocysteine levels in the blood (since the gene can no longer break down the acid efficiently). As a result, higher risks of other health conditions, including glaucoma, mental health disorder, cancer, and birth abnormalities.

Variants Of The MTHFR Gene

Mutation in MTHFR genes is common in either or both of its variants- C677T and A1298C.

C677T MTHFR Mutation: C677T is the most prevalent and known MTHFR mutation variant. Approximately 10-15% of all North American Caucasians and 25% of Hispanic descents are homozygous (inheriting the same alleles for the MTHFR gene from both parents) with this mutation (1). More so, roughly 30-40% of the American population and 30-50% of all people have a gene mutation at C677T.

A1298C MTHFR Mutation: A1298C is less common than C677T and has a prevalence in 7-12% of North Americans, Europeans, and Australian populations, 4-5% Hispanics, and 1-4% Chinese.

Conditions Linked To MTHFR Gene Mutation

Before we go into the conditions linked to this gene’s mutation, let’s take a more in-depth look into the MTHFR gene and its activities.

MTHFR gene is just one out of the 20,000 genes in the human body, and like every other gene, most persons have two copies. The gene is responsible for telling the body how to create the enzymes needed to breakdown (methylate) folate and the amino acid homocysteine.

Folic acid and homocysteine breakdown (“methyl-ation”) simply describe adding methyl to ingested folate (foods containing Vitamin B12 or B9) to allow it to perform its bodily functions. Some of the bodily functions of folate after methylation includes:

  • Homocysteine regulation
  • Detox
  • Immune system regulation
  • Inflammation control
  • Neurotransmitter synthesis
  • Regeneration and repairs of DNA, cells, and tissues.

So, a distortion of methylation from MTHFR gene mutation makes the body unable to absorb or use the synthetic forms of folic acid and B vitamins; hence, the following conditions.

  • Homocystinemia: This is the most significant health risk associated with MTHFR gene mutation. It describes high levels of homocysteine in the blood or urine from low methylation of homocysteine. Homocysteine levels are responsible for balancing cholesterol and inflammation levels.  Thus, homocysteinemia symptoms aren’t so obvious but significantly link to a higher risk of cardiovascular diseases, Alzheimer’s disease, skeletal development abnormalities in children, and chiefly nutritional deficiencies causing anemia, pains, and aches.
  • Mental Health and Behavioral Disorders: Methylation fosters the production and synthesis of neurotransmitters like serotonin. Serotonin is the hormone that enables the brain cells to communicate with the nervous system in stabilizing mood, feelings, happiness, and well-being. Abnormal serotonin levels promote conditions like depression, anxiety, insomnia, Attention Deficit Hyperactivity Disorder (ADHD), and other mental and behavioral disorders. 
  • Anemia: Methylation is also crucial in red blood cell formation. A distortion in its normal function from this gene mutation causes lesser production of red blood cells and links to anemia, heart palpitations, and more.
  • Decreased Detox: The human body readily gets rid of ingested toxins from foods, water, and air through various methods involving the kidney, liver, lungs, and skin but chiefly with the liver and kidney. Yet, methylation is a significant process required for the liver and kidney to efficiently remove heavy metals and other toxins. Distortion from MTHFR gene mutation thus leads to ineffective removal of these toxins.
  • Pregnancy Complications: Studies suggest that women with homozygous C677T variant mutation have an increased risk of having a child with neural tube effects and recurring miscarriages.

Symptoms of MTHFR Gene Mutation

Depression and Anxiety: Although depression and anxiety are complex conditions with various possible connections, deficiency in vitamin B-12 or folate is one significant possibility. However, mutation-caused depression and anxiety accompany constipation, shortness of breath, mood changes, and loss of appetite.

Fatigue: Although there are ways to boost energy and metabolism, the effects of distorted methylation from the mutated MTHFR gene can get you feeling tired, short of breath, and dizzy. However, these symptoms result from a combination of inefficient methylation of folate and decreased red blood cell formation.

  • Alzheimer disease
  • Autism
  • Cardiovascular diseases, including strokes and heart attacks
  • Colon cancer
  • Diabetes
  • Down syndrome
  • Fibromyalgia
  • Hormonal and fertility problems like recurring miscarriages and PCOS
  • Migraines
  • Parkinson disease
  • Pulmonary embolisms

How To Test For MTHFR Gene Mutation

The American Heart Association, American College of Medical Genetics, and the American Congress of Obstetricians and Gynecologists do not recommend genetic testing for MTHFR gene variants.

That is because they do not consider MTHFR gene mutation as a significant standalone risk factor for blood clots, pregnancy loss, heart disease, or any other linked health conditions (2). The first approach is to speak with your doctor to run a blood test for homocysteine levels to confirm if you need to address an MTHFR gene mutation.

Treating MTHFR Gene Mutation

A short story: Back then, before I became a certified health coach/nutrition expert, I always suffered from fatigue and mood issues. Fatigue and mood changes are quite simple conditions but can be traced to many health problems, including MTHFR gene mutation. However, I was functional doctor Dr. Keesha ewers tested me for this mutation and started me on methylated B-vitamins and folate, and my mood and energy considerably improved.

Below are some ways to help your body avoid unwanted symptoms that come with the  MTHFR gene mutation.

Consume Methylated Forms of Folic Acid and B-Vitamins

One of the most effective ways of managing MTHFR gene mutation is to consume folate in methylated form. Remember, the idea is not to increase an intake of folic acid but those in methylated forms. That is because your body might still have a hard time converting synthetic folic acid into useable forms. Below is a list of products you can consider

PS: There is no standard recommended dosage for these supplements, but it is advisable to start slowly because the body begins to detox heavier than its previous norm after the intake.

Treat Digestive Problems

This approach helps you manage the symptoms of MTHFR gene mutation rather than directly confronting it. Gut bacteria have so much effect on your immune system, depression, anxiety, and other brain parts that process emotions. Fortunately, these parts also affect cardiovascular health, like blood pressure. So, effectively improving your gut bacteria is an exciting way to reduce symptoms of low methylation. You can check out my free gut-healing guide for methods to heal your gut and improve your immune health.

Discuss With Your Doctor

This should be your first approach to treating high homocysteine levels from MTHFR gene mutation or other health conditions. Some of the low methylation symptoms include depression, fatigue, pain, high cholesterol, and more. Still, it is possible that solutions like antidepressants, pain relief, antibiotics, cholesterol-lowering pills, antacids, and others can interfere with methylation negatively and deplete folate levels even more. So, you should consult with your doctor for the best approach if you want to use these drugs and treat poor methylation alongside. 


As stated earlier, low methylation disallows your body from disposing of heavy metals and toxins. Hence, effectively managing this condition might mean you help your body to release these harmful chemicals quickly. Generally, you can improve your body’s detoxification by eating more veggies, increasing antioxidant intake, water, and exercising regularly, but in my 3-day cleansing guide, you get more precise methods, including recipes and a shopping list for products to cleanse your body gently

Final Note

Conclusively, gene mutation isn’t a topic so far-fetched anymore. Recent studies are unraveling prevailing mutations of genes common to a reasonably large percentage of us, and a good example is the MTHFR gene mutation.

There are two variants of the MTHFR gene. The C667T is more prevalent and links to various health risks, including high homocysteine levels, vitamin B deficiency, reduced detox, mental and health disorders, pregnancy complications, and cardiovascular diseases.

The MTHFR gene mutation symptoms are quite wide range, including fatigue, depression, mood changes, AHDH, autism, down syndrome, recurring miscarriages, and more. However, one of the best approaches to managing these symptoms is to increase methylated folic acid intake, detox, and improve your gut health

About the author 

Aayah Khalaf

A health coach and detox specialist, CEO and founder of Bee Nourished a health and weight-loss initiative. I help women and mothers achieve their health and weight-loss goals with life changing programs that are uniquely yours.

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  1. Thanks ayaah for the article, I tested for the mutation and I do have it, I am struggling with the supplements it makes me very irritable I am taking methylpro, not working for me so will try the brand your recommended, thanks again this is very very useful!

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