What Is the MTHFR Gene Mutation? And How Does It Affect You?

In recent years, the MTHFR gene has garnered attention for its role in various health conditions and how its mutations can impact your well-being. From cardiovascular health to mental wellness, understanding the implications of MTHFR gene mutations can provide valuable insights into personalized healthcare and lifestyle choices.

Join us as we explore the science behind MTHFR gene mutations and uncover their potential effects on our health and everyday lives.

What Are the Health Implications of the MTHFR Gene Mutations?

Mutations in the MTHFR gene can lead to a variety of health issues, largely due to their impact on your body’s ability to process folate and homocysteine.

A few quick definitions:

Folate

Folate, also known as vitamin B9, is a water-soluble vitamin that plays a crucial role in various bodily functions, particularly in cell division and DNA synthesis. It is essential for the formation of red blood cells and the proper development of the fetal neural tube during pregnancy, which is critical for preventing birth defects like spina bifida. Folate is naturally found in foods such as leafy green vegetables, citrus fruits, beans, and fortified grains.

Note: In supplement form, it is often referred to as folic acid. Folic acid is the synthetic version of folate. This will be an important element to note later in this blog.

Homocysteine

Homocysteine is an amino acid that is produced in the body as part of the process of breaking down the amino acid methionine. Under normal conditions, homocysteine levels are kept in check through various biochemical pathways. However, elevated levels of homocysteine in the blood may indicate problems with these metabolic pathways and are associated with an increased risk of cardiovascular disease, stroke, and other health issues. Factors such as genetic predisposition, poor diet, smoking, and certain medical conditions can contribute to high homocysteine levels. Monitoring and managing homocysteine levels may help with maintaining cardiovascular health.

Now that we’ve defined folate and homocysteine, let’s talk about how the MTHFR mutation can affect your body’s ability to process them.

Some of the key health problems associated with MTHFR mutations include, but are not limited to:

• Elevated Homocysteine Levels: One of the direct consequences of MTHFR mutations is elevated levels of homocysteine, an amino acid in the blood, which is linked to an increased risk of heart diseases, stroke, and peripheral vascular diseases.
• Cardiovascular Disease: The inability to properly metabolize homocysteine can lead to its accumulation, contributing to the development of heart disease and stroke by promoting atherosclerosis (hardening of the arteries).
• Neurological and Psychiatric Disorders: There’s mixed (inconclusive) evidence suggesting the possibility of a link between MTHFR mutations and an increased risk of various neurological and psychiatric conditions, including depression, anxiety, bipolar disorder, and schizophrenia. According to research published in a 2022 article in Frontiers, MTHFR C677T in particular is associated with increased risk of major depressive disorder, bipolar disorder, and schizophrenia. The exact mechanisms are not fully understood but may relate to the role of folate in neurotransmitter synthesis and DNA methylation.
• Increased Cancer Risk: Some studies suggest that MTHFR mutations may be linked to a slightly increased risk of certain cancers, including but not limited to colon cancer and leukemia, possibly due to effects on DNA synthesis and repair.
• Studies have also show a link between MTHFR mutations and Pregnancy Complications and Birth Defects. 

What to Do If You Have the MTHFR Mutation

While the thought of having a genetic mutation can sound daunting at first, remember knowledge is power. There are many things you can do:

Supplements to Help

If someone has an abnormal MTHFR genotype, such as the common C677T or A1298C mutations, they may have reduced efficiency in converting folate (vitamin B9) to its active form, methylfolate.

Here are some dietary supplements that might be helpful:

1. Methylfolate (L-Methylfolate): This is the bioactive form of folate that can be directly utilized by the body, bypassing the need for conversion by the MTHFR enzyme.
2. Vitamin B12 (Methylcobalamin or Hydroxocobalamin): B12 works closely with folate in the methylation cycle. Using methylcobalamin or hydroxocobalamin forms of vitamin B12 can be more effective, as they are more readily utilized by individuals with MTHFR mutations.
3. Omega-3 Fatty Acids: These can support brain health and function, contributing to improved mood and cognitive function. Omega-3s are not directly related to the MTHFR mutation but can be beneficial for overall physical and mental health.
4. Vitamin B6 (Pyridoxal-5-Phosphate): B6 in its active form, Pyridoxal-5-Phosphate (P-5-P), is crucial for the metabolism of homocysteine and the synthesis of neurotransmitters. It helps in the conversion of homocysteine to methionine, a reaction that can be affected by MTHFR mutations.
5. Zinc: Zinc can also support the methylation process, making it a helpful supplement.

A word of caution: don’t grab the synthetic folic acid!

For individuals with the MTHFR gene mutation or other conditions that affect folate metabolism, avoiding folic acid (synthetic form of folate) and opting for methylfolate or natural sources of folate may be recommended. This is because some individuals may have difficulty metabolizing folic acid efficiently, which can lead to elevated levels of unmetabolized folic acid in the bloodstream.

Excessive levels of unmetabolized folic acid have been associated with potential adverse health effects, although more research is needed to fully understand the implications.

Foods to Eat

If you have the MTHFR gene mutation, focusing on foods rich in natural forms of folate, as well as other nutrients involved in methylation processes, may be beneficial.

Here are some examples of foods that are high in these nutrients:

1. Leafy Green Vegetables: Spinach, kale, Swiss chard, and other leafy greens are excellent sources of folate. They also contain other essential nutrients like vitamins A, C, and K, as well as minerals like iron and magnesium.
2. Legumes: Beans, lentils, chickpeas, and peas are rich in folate, fiber, and protein. They are versatile ingredients that can be incorporated into various dishes, such as soups, salads, and stews.
3. Cruciferous Vegetables: Broccoli, Brussels sprouts, cauliflower, and cabbage are not only high in folate but also contain compounds that support detoxification processes in the body.
4. Avocado: Avocados are a good source of folate, as well as healthy fats, fiber, and potassium. They can be enjoyed on toast, in salads, or blended into smoothies.
5. Citrus Fruits: Oranges, lemons, limes, and grapefruits are rich in vitamin C, which is important for supporting immune function and enhancing iron absorption. Some citrus fruits also contain folate.
6. Beets: Beets are packed with folate, as well as antioxidants and dietary nitrates that support cardiovascular health. They can be roasted, steamed, or grated raw into salads.
7. Asparagus: Asparagus is a good source of folate and contains compounds that support liver health and detoxification processes.
8. Eggs: Eggs are rich in several nutrients, including folate, choline, and B vitamins. They can be prepared in various ways, such as boiled, scrambled, or poached.
9. Nuts and Seeds: Walnuts, almonds, flaxseeds, and chia seeds are good sources of folate, as well as healthy fats, protein, and fiber. They can be added to oatmeal, yogurt, or salads for an extra nutritional boost.
10. Seafood: Fish such as salmon, trout, and tuna are rich in folate, omega-3 fatty acids, and protein. They are also sources of vitamin D, which is important for bone health and immune function.

It’s essential to maintain a balanced and varied diet that includes a wide range of nutrient-rich foods to support overall health and well-being, especially if you have the MTHFR gene mutation. Additionally, consulting with a healthcare professional or registered dietitian can provide personalized dietary recommendations based on your individual needs and health status.

Lifestyle Modifications

In addition to focusing on dietary choices, there are several lifestyle tips that individuals with the MTHFR gene mutation may find beneficial:

1. Regular Exercise: Engaging in regular physical activity can help support overall health and well-being. Aim for a combination of cardiovascular exercise, strength training, and flexibility exercises to promote heart health, maintain muscle mass, and improve mobility.
2. Stress Management: Chronic stress can negatively impact methylation processes in the body. Practice stress-reducing techniques such as mindfulness meditation, deep breathing exercises, yoga, or tai chi to promote relaxation and reduce the harmful effects of stress.
3. Adequate Sleep: Prioritize getting enough high-quality sleep each night. Aim for 7-9 hours of sleep per night to support optimal physical and mental health. Establishing a regular sleep schedule and creating a relaxing bedtime routine can help improve sleep quality. Avoid blue light for 1-2 hours before bed. (Find out why here.)
4. Limit Alcohol and Caffeine: Excessive alcohol consumption can interfere with folate metabolism and methylation processes in the body. Limit alcohol intake to moderate levels, or avoid it altogether if possible. Similarly, limit caffeine intake, especially in the afternoon and evening, to promote better sleep quality.
5. Avoid Environmental Toxins: Exposure to environmental toxins such as heavy metals, pesticides, and air pollutants can disrupt methylation processes and contribute to health problems. Minimize exposure to these toxins by choosing organic foods, using natural cleaning and personal care products, and avoiding smoking and secondhand smoke. (Need better personal care products? The Environmental Working Group has a database of clean products.)
6. Stay Hydrated: Drink plenty of water throughout the day to stay hydrated and support overall health. Hydration is essential for proper detoxification processes in the body and helps maintain optimal cellular function.
7. Quit Smoking: Smoking tobacco can impair folate metabolism and increase the risk of cardiovascular disease and other health problems. If you smoke, consider quitting to improve your overall health and reduce the negative impact on methylation processes.
8. Supplement Wisely: In addition to dietary folate sources, consider supplementing with methylfolate or other methylated B vitamins to support methylation processes in the body.

By incorporating these lifestyle tips into your daily routine, you can support optimal methylation processes and overall health, even with the MTHFR gene mutation. It’s important to focus on holistic health practices that address diet, exercise, stress management, and environmental factors to promote well-being and reduce the risk of chronic disease.

How Do You Know If You Have an MTHRF Mutation?

There are several labs that offer testing for MTHFR mutations.  MTHFR testing can help identify mutations in the MTHFR gene, which can affect processes in the body such as DNA synthesis and repair, metabolism of certain amino acids, and the conversion of homocysteine to methionine.

Here are general options for testing:

1. Clinical Laboratories: Many clinical diagnostic labs offer MTHFR mutation testing. This includes large national laboratories as well as specialized genetic testing companies. You would typically need a doctor’s order to get tested at these labs.
2. Direct-to-Consumer Genetic Testing Companies: Some companies offer genetic testing kits that you can order online, which may include MTHFR mutation analysis. These services vary in terms of what they offer, their accuracy, and their privacy policies, so it’s important to do thorough research.
3. Healthcare Provider: Some healthcare providers have the capability to order MTHFR testing directly through their associated laboratories. This might be a more integrated approach to testing, as it allows you to discuss the results and their implications directly with your healthcare provider.

Note: If you’re looking to get tested, the NextStep team recommends either option #1 or #3.

When looking for a lab to test for MTHFR mutations, consider the following:

• Accreditation: Ensure the lab is accredited by a recognized body, such as the College of American Pathologists (CAP) or has CLIA certification, indicating it meets standards for laboratory testing.
• Privacy Policies: Understand how your genetic information will be used and shared, especially with direct-to-consumer options.
• Comprehensiveness: MTHFR mutation testing can focus on one or several mutations, commonly C677T and A1298C. Make sure the testing covers the mutations you’re concerned about.
• Cost and Insurance Coverage: Costs can vary widely, and insurance coverage for MTHFR testing is variable. Check with your insurance provider and the testing service to understand any out-of-pocket costs.

If you need specific names of labs or more detailed guidance on how to proceed with MTHFR testing, it’s best to consult with a healthcare provider or a genetic counselor. They can provide personalized advice and may be able to recommend specific labs based on your health history and needs.

How We Can Help

If you suspect that MTHFR gene mutation is connected to a psychiatric disorder, don’t hesitate to reach out for help. Our multidisciplinary team is here to help you get the care you need.

To make an appointment, click here to get started.

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What Is the Difference Between Psychiatrists and Psychologists?

If you have mental health concerns — whether that’s anxiety, depression, or turmoil in your relationship — you should seek help. But who do you need to see? How do you know what type of mental health care provider you should talk to? Do you need a psychiatrist or psychologist? The answer might be: both.

Part of what makes Next Step unique is that we are a multidisciplinary team. In our case, a multidisciplinary team is a group of mental health care professionals who are members of different professions (e.g. psychiatrists, psychologists, pediatricians, coaches, etc.). Each provider offers specific services to you. A multidisciplinary team coordinates their services as the team works together towards a specific set of goals.

If you’re unsure which type of provider would benefit you, you’re not alone. There’s a lot of confusion out there! In this article, we’ll explore the differences and similarities between psychiatrists and psychologists — and why seeing both providers might be the right solution for you.

What Are the Differences Between Psychiatrists and Psychologists?

For those researching mental health care providers, this is a common question. There are a lot of differences, but also many similarities between these two types of providers. We talked to Dr. Brian Briscoe to gain a deeper understanding.

Similarities

Both psychologists and psychiatrists have a strong background and understanding of mental health conditions.  Both providers:

• Have completed extensive (6 years or more!) doctorate-level graduate study and training after undergraduate studies
• Receive extensive training in evaluating, managing, and treating a broad variety of mental illnesses

The Big Difference

Dr. Briscoe says, “The primary difference between the two tends to be the scope of practice ‘in the real world.'” He continues, “Psychiatrists attend medical school as part of their training, and hence have the ability to conduct lab work and other medical tests to rule out medical causes of physical symptoms that are often associated with mental health conditions (e.g. lack of energy, insomnia, excessive sweating, etc.).  And, given their medical background and license, psychiatrists may prescribe medications when necessary.”

PSYCHIATRY
Many psychiatrists have been extensively trained to provide psychotherapy, and a few psychiatrists provide hour-long psychotherapy sessions on a routine basis.  However, due to the demands of the “real world” (e.g., lack of insurance coverage for psychiatrists to provide psychotherapy, paucity of psychiatrists vs. therapists, demand for medication management, etc.) most psychiatrists in the “real world” tend to provide shorter sessions, specialize medication management, and provide oversight of their patient’s comprehensive treatment plan — a plan that ideally involves a dedicated team of psychologists, therapists, and/or coaches.”

Psychologists do not have a medical degree, and hence are unable to prescribe medications.   Dr. Briscoe continues, “However, psychologists tend to receive more training in neuropsychological testing than many psychiatrists — a tool that can be helpful in certain cases.  Because psychologists end up providing more psychotherapy in the “real world” than some psychiatrists, their skills in psychotherapy are often perfected over time — and this skill can be of great service to persons struggling with anxiety, depression, OCD, and other forms of mental illness.”

Seeing a Psychiatrist and Psychologist Offers the Best of Both Worlds

If you are struggling with a significant mental health condition, it is generally best to see BOTH a psychiatrist and a psychologist (or therapist).

Dr. Briscoe highlights a key fact: “Good professionals (that includes both psychiatrists and psychologists) should be willing to collaborate with each other in order to do what is best for your health and wellbeing. If you are seeing a professional that does not seem willing to collaborate with other mental health professionals, we would advise some caution.”

Benefits of Multidisciplinary Treatment

Numerous studies have shown that multidisciplinary approaches to treatment tend to lead to better outcomes than medication alone or psychotherapy alone.”

WHAT MULTIDISCIPLINARY TREATMENT MIGHT LOOK LIKE
If you’ve never received mental health care from a multidisciplinary team, that’s okay. Dr. Briscoe explains what treatment might look like:

“Multidisciplinary treatment does not have to be extremely expensive.  Once a medication has been started and the dose dialed in, your visits with the psychiatrist (M.D.) may only have to occur once every 2-3 months — or even less than that if the medication dose is going to stay the same.  Visiting a psychiatrist can be a little more expensive at first because you have to do the initial evaluation and then the first few follow-up sessions every few weeks as you are getting the medication adjusted.  But after that, the cost goes down quite a bit.”

On the other hand, “Psychotherapy generally works best if it is provided on a weekly basis.  Some people do okay with every other week, but I generally recommend it once a week if possible.   In my experience once a month does not work,” Dr. Briscoe says.

Consider this analogy:

Think of going to the gym.  It doesn’t do any good to go to the gym or exercise once a week.  If you are going to make any progress you really need to exercise every other day or at least three times a week.    If you just go once a week, you won’t get anywhere.  It’s just like that with psychotherapy — except that the frequency of psychotherapy needs to be once per week — not every two days.

Dr. Briscoe recalls another analogy, one that his former professor and Chair of his Department of Psychiatry once taught him: Psychotherapy is like a rubber band.  “If you engage in therapy once a week, you s t r e t c h yourself just a little and make progress each week.  But if you wait too long between sessions (say one month), the rubber band snaps back to its original shape and you don’t get anywhere.”

However, you should not have to do psychotherapy indefinitely.  Depending on the type of psychotherapy you are completing, you might expect to meet weekly on average for a few months (or maybe even a little longer), then maybe taper off.

You don’t need to go to therapy forever. Dr. Briscoe says, “Gone are the days of meeting every week for 5-10 years.  We don’t do that anymore.”

Explore Your Next Steps

Regardless of what type of mental health concerns you have, our team of skilled and compassionate providers can help you regain control of your life. At NextStep 2 Mental Health, it’s our mission to help you live a happier life, a better life.  Give us a call at our Louisville, Kentucky office at 502-339-2442, or send us a message to request more information. 

You can also request an appointment with our convenient scheduling tool here.

About Dr. Briscoe

Dr. Brian Briscoe is a board-certified psychiatrist. He also serves as the medical director of adult programs here at Next Step. He was voted a “Top Doctor” by Louisville Magazine. You can make an appointment with Dr. Briscoe here.