Understanding The MTHFR Gene: How An MTHFR Mutation Could Affect Your Mental Health
As technology progresses, researchers are gaining the tools and knowledge to take a closer look at the human body, down to the genome. The Methylenetetrahydrofolate reductase (MTHFR) enzyme is one part of the body that researchers are taking a closer look at. In a modern media landscape, concepts like genetic engineering and testing are entering mainstream conversations. Amid these discussions, it may be easy to gloss over the core definitions that allow humans to understand the present and future of mental health science. It can be helpful to begin with these definitions to understand concepts like a MTHFR gene.
What is a gene?
A gene is a sequence of DNA that specifies your unique physical and biological traits. Genes are considered the basic units of inheritance, passed biologically from parents to offspring. In some cases, people inherit genetic mutations, which are permanent changes in a DNA sequence that can increase the risk of genetic disease.
Scientists are deepening their understanding of genetic mutations that may increase the likelihood of developing mental illnesses. One of these mutations occurs in the MTHFR gene, which provides instructions for the human body to make MTHFR protein, which helps the body process folate.
To highlight the connection between mind, body, and genes, looking at the latest research on the relationship between MTHFR and mental health can be helpful.
What is the MTHFR gene?
The MTHFR gene helps the body make an essential protein, an enzyme called methylenetetrahydrofolate reductase, commonly abbreviated to MTHFR. Everyone has two copies of the MTHFR gene, and variants in these genes are common.
In this case, it can be essential to distinguish between gene variants, which do not always cause disease or health problems, and gene mutations. Scientists often use the term "gene mutation" to describe permanent changes in DNA that may cause disease. However, language is often evolving. Some scientists may argue that "variant" is a better, more neutral descriptor of DNA changes since many have no visible impact on health. Scientists have identified 34 rare MTHFR mutations and nine common MTHFR variants.
The MTHFR protein is responsible for processing folic acid in food, breaking it down, and converting it to the active form, folate, which the body uses for several processes. Folate helps the body metabolize proteins, form DNA and RNA, produce healthy red blood cells, and influence mental health, based on recent studies.
How can MTHFR gene mutations affect mental health?
Science is evolving, and researchers haven't identified a clear and consistent link between MTHRF gene mutations and mental health. However, current research indicates these mutations may increase the risk of schizophrenia, major depression, autism, bipolar disorder, heart disease, and other mental health diagnoses.
There are still significant questions about the mechanisms of MTHFR and its role in mental health. Some researchers believe that a deficiency or defect in MTHFR enzymes causes the body to improperly synthesize methionine, an amino acid that makes proteins and other compounds in the body. A deficiency in methionine may cause the body to unintentionally "read" genes that are generally not read, producing proteins that heighten the risk and severity of specific psychiatric disorders. Increased homocysteine levels have also been linked to these mental health conditions.
In addition to the conditions mentioned above, MTHFR mutations have also been associated with chronic fatigue syndrome, attention-deficit hyperactivity disorder, and hypothyroidism. The C677T and A1298C polymorphisms are specific MTHFR variants that have been studied recently. High homocysteine levels and MTHFR deficiency are considered risk factors for various health issues, including an elevated blood pressure.
For more detailed additional information, you can consult the National Library of Medicine (NLM) or the NLM NIH website, where extensive resources on gene polymorphisms, MTHFR polymorphisms, and MTHFR mutations are available. Always seek medical advice from a healthcare professional regarding high homocysteine levels and a potential MTHFR mutation.
How do I know if I have an MTHFR mutation?
You'll know if you have an MTHFR mutation based on the results of a genetic test, which a doctor may recommend based on your health and family history. Genetic testing analyzes DNA changes– gene mutations and variants – that can inform your medical care.
This genetic information may be beneficial if:
You're aware of a genetic condition that runs in your family.
You plan to have children and are concerned that they may inherit a genetic condition.
Your child has symptoms of a genetic condition.
You're experiencing another health condition, such as cancer, and want more information to guide your treatment plan.
You may not know if you have an MTHFR mutation based solely on your mental or physical health history, so consult a doctor for further guidance.
What should I do if I have the MTHFR gene mutation?
If you find out that you have the MTHFR gene mutation, try not to panic. Your medical team has the tools and expertise to help you understand the next steps. While this mutation may increase your risk of developing certain diseases, it does not guarantee unwanted health outcomes.
If genetic testing results show that you have an MTHFR variant, you're one of millions of people who have one. There are more people in the United States who have one or two copies of MTHFR C677T, the most common MTHFR variant, than people who do not have it.
Further steps to take
Your doctor may suggest the following steps if you've confirmed an MTHFR gene variant or mutation. However, consult a licensed medical professional before making any medical decisions or lifestyle changes based on genetic testing results.
Consume the recommended amount of folic acid
Some studies show evidence of an association between MTHFR gene variants and increased risk of neural tube defects, which occur during the development of the brain and spinal cord during gestation. One of the most common neural tube defects is anencephaly. This refers to a baby being born with an undeveloped brain or skull. One meta-analysis from the National Library of Medicine shows that maternal MTHFR C677T polymorphism is a genetic risk factor for neural tube defects.
According to the Centers for Disease Control (CDC), folic acid is the only type of folate shown to prevent neural tube defects. If you have an MTHFR gene variant or mutation and are pregnant or planning to conceive, your doctor may recommend consuming more folic acid, the most common folate (the natural form of Vitamin B9) found in many vitamins and supplements.
Most people who have high levels of homocysteine in the body don’t consume enough folic acid. To consume a form of folate naturally, focus on eating dark, leafy green vegetables, beans, peanuts, sunflower seeds, and whole grains. While a well-balanced, folate-rich diet is essential, folic acid, added to supplements and enriched foods, is better absorbed by the body than the folate found in foods.
Focus on your mental and physical health
For some, the topic of genetic testing and mutations can bring up challenging emotions and confusing thoughts. Discovering that you have a gene variant or mutation may be scary, overwhelming, and confusing, especially if you have a friend or family with a genetic disease.
As you interpret your results, remember that your emotions are valid and you're not alone. Not only are gene variants common, but the medical community continues to study their impacts. If you seek genetic testing, your doctor can help you understand the potential effects of genetic variations on your physical and mental well-being.
As researchers continue to study the connection between the MTHFR gene and mental health, some may find it helpful to connect with a mental health professional who can help them manage anxiety, depression, and other emotions that may surface during or after genetic testing. In addition to seeing a licensed counselor, a doctor might encourage you to participate in genetic counseling, which provides detailed information about how genetic conditions could affect you or your family.
Consider professional support
Perhaps you're worried about the impact of a gene mutation on your future or a genetic condition that could impact your future or current children. Regardless of your situation, a therapist may help you take a step back, take deep breaths, and develop coping strategies to manage your concerns, both now and in the future.
Today, online platforms like BetterHelp can make professional, affordable therapy services convenient to clients with various mental health concerns and goals. You can complete a brief questionnaire and match with a licensed therapist through an online platform, scheduling sessions at a time and place that works for you, even if you're balancing an active, busy, or otherwise unpredictable lifestyle.
A growing body of research shows that online therapy, often called teletherapy, is a viable treatment option with similar outcomes to face-to-face psychotherapy. While online genetic counseling differs from teletherapy for mental health, it may also be an option for individuals interested in learning more about MTHFR and other genes. However, online genetic counseling is done with a doctor and may not be offered on teletherapy sites.
Takeaway
What does it mean if you have the MTHFR gene?
The MTHFR gene helps the body make an enzyme called methylenetetrahydrofolate reductase (MTHFR). Methylenetetrahydrofolate enables the conversion of 5,10 methylenetetrahydrofolate reductase to 5-methylenetetrahydrofolate. In other words, this enzyme allows the body to process folic acid from foods consumed and turn it into folate. Folate is an essential substance in forming DNA, forming RNA, and producing healthy red blood cells, and it’s thought that it might possibly play a role in a person’s risk of developing various mental and physical health conditions too.
Everyone has two copies of the methylenetetrahydrofolate reductase (MTHFR) gene, but some people have mutations of this gene. A 2018 paper and meta-analysis on the topic suggests that some mutations could cause a methylenetetrahydrofolate reductase deficiency or even a severe methylenetetrahydrofolate reductase deficiency, which could potentially play a part in a person’s likelihood of developing conditions like schizophrenia, major depression, autism, and bipolar disorder, among others. It could also result in an increased risk of cardiovascular disease and other physical health concerns. Note, however, that scientific evidence for this link is varied and inconclusive as yet.
What does the MTHFR gene affect?
The MTHFR gene affects the body’s ability to turn consumed folic acid into folate, which is used in forming DNA and RNA, producing healthy red blood cells, and potentially supporting mental and physical health in other ways.
How do I know if my baby has MTHFR?
MTHFR polymorphism testing is available for those who suspect they may have a related genetic condition or who want to know if their children could have a risk factor(s) for one.
What foods to avoid if you have MTHFR?
Those with an MTHFR gene mutation may benefit from eating certain foods and avoiding others in order to support good health. Examples of some to avoid may include heavily processed foods and refined sugars.
What are signs you might have MTHFR?
Many people who have a mutation of the MTHFR gene are unaware of it unless they undergo specific genetic testing or experience a severe condition related to it. Having a mutation(s) of the MTHFR gene can also lead to slightly elevated levels of the amino acid homocysteine in the blood, which could be noticeable on a blood test. Too much of these amino acids could lead to an increased risk of blood clots, a vitamin B12 deficiency, or other complications as a result of high homocysteine levels.
Why is MTHFR controversial?
Information about the methylenetetrahydrofolate reductase (MTHFR) gene mutation is controversial because the evidence about its links to various illnesses and conditions—from birth defects (specifically neural tube defects) like spina bifida to mental illnesses like schizophrenia—is varied, and some of it is contradictory or inconclusive.
Is MTHFR passed from mother or father?
Each person has two copies of the methylenetetrahydrofolate reductase gene: one from each parent.
Can MTHFR go away?
If you have a mutation in your MTHFR gene, there’s no way to change that. However, if you have an illness or condition that could possibly be a result of that mutation, there may be treatment methods available. It all depends on the type of condition you may have. Mental health conditions like major depression and schizophrenia, for example, can be managed with the right mental health support.
Can MTHFR cause weight gain?
Some research has linked trouble with DNA methylation as a result of dietary quality to weight gain and obesity. Since MTHFR mutations could potentially cause problems related to nutrient deficiencies, they could contribute to weight gain or difficulty losing weight if desired. Scientific evidence on the topic is yet inconclusive.
Can you have a healthy baby with MTHFR?
Yes. It’s possible to have a healthy baby even if you’ve been tested and found to have a mutation in your MTHFR gene.
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