Jean Marc Sobczyk, MD, ND

08/16/2025

MTHFR isn't a disease—it's a modifier. And that changes everything.

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Here's the uncomfortable truth about genetic testing: most healthcare professionals tell you not to test for MTHFR because "it doesn't change management." 

But here's what they're missing :knowledge can be the catalyst that finally motivates lasting change.

The psychology of genetic insight

We need to discuss MTHFR openly. If you've spent time in wellness circles, you've probably heard someone blame their fatigue, anxiety, or heart disease risk on this single gene variant. It's become genetics' most controversial player—and I understand the fascination.

MTHFR testing is accessible, results feel definitive, and having a biological "reason" can be profoundly motivating. 

The problem isn't the testing: it's the catastrophic misinterpretation that follows.

What the research actually shows

Cardiovascular disease is multifactorial and polygenic—dozens of genes plus environment shape your risk, not one variant. When researchers add polygenic risk scores (PRS) to standard tools, they identify significantly more people who later have cardiac events, especially younger patients. The lesson? Your genetic architecture matters, but it's the whole blueprint, not a single line.

MTHFR C677T: modifier, not destiny

Yes, the TT variant can nudge homocysteine levels up by reducing folate processing efficiency. But in our folate-fortified world, Mendelian randomization studies show that MTHFR-driven homocysteine elevation hasn't proven causally linked to cardiovascular disease or mortality.

This doesn't make MTHFR meaningless—it makes it context-dependent. In populations with poor folate status, TT variants do associate with higher stroke risk. Your genes set the stage, but nutrition and lifestyle write the script.

Why testing still matters (even when guidelines say it doesn't)

Here's where conventional medicine gets it wrong. Current guidelines don't recommend MTHFR genotyping for cardiovascular risk assessment—and they're technically correct. But they're missing the motivational power of personalized insight.

See more in the comlent

06/07/2025

As integrative medicine practitioners, we must navigate the complex landscape of longevity research with both scientific rigor and clinical wisdom. The recent spotlight on taurine as a potential anti-aging compound offers an excellent case study in how we should evaluate emerging research—particul...

05/03/2025

MTHFR and Sleep: Emerging Insights

The MTHFR gene encodes for an enzyme, crucial for folate metabolism and the methylation cycle. Variants such as C677T and A1298C can reduce MTHFR activity, leading to elevated homocysteine levels and impaired methylation.

This disruption affects neurotransmitter synthesis, including serotonin and melatonin, which are vital for sleep regulation.

A case study highlighted a patient with chronic insomnia who was homozygous for the MTHFR C677T polymorphism. The patient exhibited elevated homocysteine levels and fragmented sleep patterns. Targeted interventions addressing the MTHFR-related metabolic dysfunction led to significant improvements in sleep quality, suggesting a potential causal relationship between MTHFR polymorphisms and insomnia.

For individuals with MTHFR polymorphisms experiencing sleep disturbances, consider the following:

L-Methylfolate Supplementation: Using the bioactive form of folate

B-Vitamin Complex: Ensuring adequate levels of vitamins B6, B12, and riboflavin can aid in neurotransmitter synthesis

Lifestyle Modifications: Incorporate stress-reducing practices such as meditation, yoga, and regular physical activity to support overall well-being and sleep quality.

Sleep Hygiene: Establish a consistent sleep schedule, create a restful environment, and limit screen exposure before bedtime.



References

PubMed ID: 34847989 PubMed ID: 38528721 Genomind Article MTHFR Gene Health Article

03/20/2025

Recent studies comparing folinic acid and methylfolate in MTHFR variant carriers reveal nuanced differences in effectiveness, with outcomes influenced by genetic subtypes:

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Key Findings from Direct Comparisons

Homocysteine Reduction

A 2023 randomized trial found both supplements equally effective in lowering homocysteine levels. However, genotype-specific differences emerged:

MTHFR 677CT carriers: Folinic acid reduced homocysteine significantly more than methylfolate.

MTHFR 677TT carriers: Methylfolate showed greater efficacy, likely due to its direct bioavailability bypassing defective enzyme activity.

Serum Folate Levels

Folinic acid raised serum folate levels 59% higher than methylfolate, suggesting better absorption or metabolic utilization in some individuals

Genotype-Specific Recommendations

677CT Heterozygous: Folinic acid may be preferable for homocysteine reduction

677TT Homozygous: Methylfolate is more effective due to severe enzymatic impairment

Pregnancy Outcomes in MTHFR Carriers

While not directly comparing folinic acid, a 2021 study demonstrated methylfolate’s superiority over folic acid in reducing miscarriage rates (6% vs. 54%) and improving pregnancy continuation (60% vs. 22%) in MTHFR mutation carriers. This highlights methyl folate’s utility in clinical contexts requiring active folate forms.

Limitations and Considerations

No studies directly compare folinic acid and methylfolate in pregnancy-specific cohorts.

Methylfolate avoids risks associated with unmetabolized folic acid (UMFA), which may accumulate in MTHFR-deficient individuals.

Conclusion

Current evidence supports personalized supplementation based on MTHFR genotype:

677CT: Folinic acid for optimal homocysteine management

677TT: Methylfolate for direct metabolic support

Further research is needed to clarify long-term outcomes and optimal dosing in diverse populations.

03/06/2025

Feed Your Genes: The Folate Connection to Longevity

Have you ever wondered how a tiny enzyme can impact your longevity? The MTHFR gene is a key player in converting folate into its active form, which fuels DNA methylation. DNA methylation isn’t just about switching genes on and off; it’s essential for maintaining healthy cell function and ensuring our genetic blueprint is accurately maintained over time.

When folate is lacking, our cells can struggle to methylate DNA properly. This may lead to genomic instability and a reduced capacity for DNA repair, potentially interfering with the aging process and overall longevity. For those with MTHFR mutations, this balance can be even more delicate. Optimizing your folate intake—through nutrient-dense foods like leafy greens, legumes, and fortified grains—might be the boost your body needs to support its epigenetic machinery.

Taking care of your DNA is like nurturing the foundation of a healthy life. Remember, it’s not just about adding years to your life, but life to your years!

Any questions?  DM me. 

 







   

03/06/2025

11/10/2024

DO YOU ALWAYS NEED SUPPLEMENTS FOR MTHFR?

Patients often see me or contact me online because they have discovered they have an MTHFR variant of their genes. Everyone asks me, "What supplements do I need to take, and how often?"

My answer is always the same: Your unique health concerns, symptoms, and lifestyle are the key factors we must consider. Your individuality is at the heart of our discussion.



Let's review several typical situations:

Case  #1️⃣ : You discover you have an MTHFR mutation but no symptoms. You are feeling well and have a healthy diet (eating a limited amount of processed food, plenty of fruits and veggies, and a small amount of fortified food); you exercise regularly, sleep 7-8 hours a night, and manage your stress well. We can still run some tests to ensure the methylation cycle is optimized, but you probably don't need any supplements.

Case  #2️⃣ : you have no symptoms of an MTHFR mutation but are considering adding a new member to your family. In this case, you will likely need to support your methylation cycle for optimal fertility and healthy pregnancy, as healthy eggs and healthy s***m require ample folate. Therefore, taking an additional small dose of folate along with your prenatal vitamins during the pregnancy would be best.

Case #3️⃣ : You are very active, an athlete, a child, and you experience a growth spurt. You will also likely need additional methylation support, and, of course, you will always consider optimizing your lifestyle as well.

Case  #4️⃣ : Your lifestyle is not optimal, and you have an MTHFR mutation. You need to improve your lifestyle and then add supplements on a case-by-case basis. You must also consider additional testing (B12, Folates, Vitamin D, Homocysteine, and other markers) to help refine your treatment plan.

Case  #5️⃣ : If you are sick and carry an MTHFR mutation, the most common situation, addressing your lifestyle, potential nutritional deficiencies, and supporting methylation with supplements, is paramount to treating the root cause of your disease.

▶️ Methylation support supplements can help but are not always needed. Also, don't always trust computer-based reports.

10/12/2024

THYROID HEALTH AND MTHFR

Did you know that Thyroid and MTHFR are interconnected?

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On the one hand, MTHFR needs T4 to function; on the other hand, the Thyroid gland needs Methylfolate to make T4.

Were you aware that an estimated 20 million Americans have some form of thyroid disease? Up to 60 percent of those with thyroid disease are unaware of their condition. More than 12 percent of the U.S. population will develop a thyroid condition during their lifetime.

If the thyroid gland functions slowly, you have a sluggish, slow MTHFR enzyme, even if you don’t have an MTHFR variant.

What is the mechanism, the connection between MTHFR and Thyroid Health?

The thyroid gland produces a hormone: T4, named thyroxine.

Thyroxine is needed to convert Vitamin B2 (Riboflavin) into its active form: FAD (Flavin Adenine Dinucleotide). This conversion is necessary.
The MTHFR enzyme must have enough supply of Active Vitamin B2 (FAD) to function. Therefore, the MTHFR enzyme slows down if FAD levels are low due to low thyroxine levels.
When MTHFR is slowing down, a lower amount of Methylfolate (active folate) is available. As a result, it impairs the body’s abilities to heal, detox and reduces the synthesis of SAMe.
SAMe is essential for neurotransmitters balance, estrogen metabolism, and histamine metabolism, AND Thyroid hormone synthesis!

Where do we find Riboflavin (B2)?

Dietary sources of vitamin B2 include Broccoli, Asparagus, Brussel sprouts, salmon, eggs, almonds, and milk.

Other necessary nutrients for the Thyroid

Magnesium, Iodine, Selenium, Zinc, and Tyrosine. Tyrosine is an amino acid (a building block for proteins) necessary for optimal thyroid function.

FYI: A paleo-type diet (often used as a therapeutic diet for a wide range of health conditions) may harm your Thyroid as it will decrease the intake of riboflavin since most processed foods and grains are avoided (sources of B2)

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10/05/2024

START HERE: IF YOU WANT A TOXINS FREE HOME

Having MTHFR implies that your detoxification capacities can be moderately or severely reduced. 

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Healthy methylation (from the synthesis of methyl folate) is required to neutralize toxins, viruses, and other infections and repair cells and DNA.

What can you do to reduce your exposure to toxins beyond a great diet and supplementation?

Start Detoxing Your Home: Here are a few tips to make your home a greener place, toxins and chemicals free.

▶️ Air Detox

Did you know indoor air is more toxic than outdoor air homes retain the pollutants?
Never wear your shoes indoor
Never use insecticides indoor
Clean/Change air filters once a month if you live in a large city or a polluted area
Use an air purifier in the bedroom (Most of the detox occurs at night when we are sleeping)

▶️ Water Detox

Use a whole house water filtration system if it is not possible or too expensive.
Use Showerhead filters (Chlorine, fluoride, heavy metals, and even prescription drugs from the tap water can be absorbed through the skin or inhaled with the steam)
Don't drink unfiltered tap water or from plastic bottles (even BPA free)

▶️ Detoxing the Kitchen

Do not use plastic containers to store or heat your food. Use glass or steel containers instead.
Avoid non-stick pans (Teflon and others). Toxic compounds can leach from the damaged or scratched surface.
If you have a gas stove, make sure the hood is working well as gas combustion releases Formaldehyde, a toxic gas linked to cardio-vascular, allergy, and respiratory symptoms.
Avoid direct contact of aluminum foil with food when cooking. With heat, particles of aluminum can leach into the food.

▶️ MISC. DETOX TIPS

Use green products to clean your home (natural, chemical-free)
Never use scented candles (they contain artificial fragrances). Instead, use Organic Essential oils.
Dry cleaning: let your clothes "off-gas" for one week in the garage, in your car, before hanging them in your closet.
Let new furniture and carpets "off-gas" for a month before moving in (if you purchased a new home or remodeled yours)

     

10/03/2024

🧬 Did you know a tiny change in your genes could affect how your body uses vitamins? Let's dive into the fascinating world of MTHFR! 🤓

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MTHFR (methylenetetrahydrofolate reductase) isn't just a random bunch of letters – it's a crucial gene that affects your health in ways you might not expect!

Here's the scoop:
1️⃣ MTHFR helps your body process folate (vitamin B9) into its active form, called methylfolate.
2️⃣ Methylfolate is essential for DNA methylation – a process that's like adding or removing sticky notes on your DNA to control which genes are active.
3️⃣ If your MTHFR gene has a variation (or "mutation"), it might not work as efficiently.

Why does this matter? 🤔

DNA methylation affects everything from mood to cardiovascular health.

Proper methylation is crucial for making neurotransmitters (brain chemicals) and detoxifying your body.

Some studies suggest MTHFR variations might increase risk for certain health issues.

But don't panic! If you have an MTHFR variation, you can take action:
✅ Eat more folate-rich foods (leafy greens, legumes, citrus fruits)
✅ . Consider methylfolate supplements (always talk to a doctor first!)
✅ Reduce processed foods and environmental toxins

Fun fact: if you have an MTHFR variant, you are not alone.  About 30-40% of the population may have an MTHFR variation!

Want to learn more? Check out this article in the journal "Nutrients": "MTHFR: Addressing Genetic Polymorphisms in Folate Metabolism" (2020) for a deep dive into the science.

Link to the article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7353432/

Remember: Genes aren't destiny – they're just information we can use to make better health choices (epigenetics)! 💪🏽🧠

09/08/2024

Beyond Genetics: Lifestyle Factors That Influence MTHFR Function

Next part of the MTHFR foundations

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Your genes aren't your destiny! While MTHFR variants can affect enzyme function, lifestyle factors play a huge role too. Diet, stress, environmental toxins, and even certain medications can impact methylation. The good news? Many of these factors are within your control!

One more to go , see you on the next one !

08/23/2024

A1298C: The Other MTHFR Variant You Should Know About

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This is the 4th post of the mthfr foundations series.

While C677T gets all the attention, A1298C is equally important! This variant affects a different part of the MTHFR enzyme and can impact neurotransmitter production.
It's less studied but still significant, especially when combined with C677T.
Knowledge is power in understanding your genetic blueprint!