Health & Wellness

Let's talk about MTHFR!

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The term MTHFR stands for methylenetetrahydrofolate reductase.MTHFR is one of the more famous snp's. It is needed to make the brain chemicals of serotonin(mood😔), norepinephrine (attention👀), dopamine (pleasure💜), melatonin (sleep💤) and acetylcholine (memory🤓). It is also responsible for recycling homocysteine back to methionine.

This gene variants, can be fairly common. In North America, Europe, and Australia, about 8% to 20% of the population have 2 MTHFR C677T mutations, that is, they are homozygous. I actually carry two of these which makes me a “homozygous” and likely, inherited one from my mom and one from my dad. Probably my brothers have a variant also but I have done my own genomics a while back when I first started using medical genomics in my medical practice.

The MTHFR gene provides instructions for your body to make the MTHFR protein, which helps your body process folate. Your body needs folate to make DNA and modify proteins.A gene variant is a change in a DNA sequence that is different from the expected DNA sequence. The most common variant in the MTHFR gene is MTHFR C677T. The other well known one, is the MTHFR A1298C.While other variants exist, these two are the best-studied changes in the MTHFR gene.

MTHFR variants affects how your body processes folate. Gene variants are common and normal. Genetic variation is what makes us all unique, whether in terms of hair colour, skin colour or even the shape of our faces.Genetic variation can also explain some differences in disease susceptibility and how people react to certain drugs or medications.

The MTHFR C677T variant is more common in some races and ethnicities than in others. Hispanic individuals are more likely than non-Hispanic whites and non-Hispanic blacks to have it. Conditions of the MTHFR gene mutation vary from person to person and from variant to variant.

MTHFR C677T mutations are tied to cardiovascular problems, elevated homocysteine, stroke, migraines, miscarriages, and neural tube defects. Some studies also suggest that people with two C677T gene mutations have about a 16 percent higher chance of developing coronary heart disease. The MTHFR A1298C mutations are tied to higher levels of fibromyalgia, IBS, fatigue, chronic pain, schizophrenia, and mood-related problems. This does not mean, you will have these conditions but may be more susceptible for these.

How do we treat the MTHFR gene mutation?

Having an MTHFR variant doesn’t mean you need medical treatment. By making certain lifestyle modifications, can be enough to address this gene, such as:

  • Lifestyle changes like following an anti-inflammatory lifestyle and diet as well as focusing in more green leafy vegetables is recommended.

  • Avoid smoking, staying active and doing regular physical activity

  • Vitamin B supplements and methylfolate are most commonly prescribed by doctors to treat MTHFR mutation and perhaps certain other vitamins if we see a benefit or need for these.

  • Treatments for any disease caused by the MTHFR mutation (e.g., for depression the use of antidepressants) may be prescribed. It could just mean you need to take methylfolate (more active form) and a vitamin B supplement.

    When i began taking methylfolate and active forms of B vitamins (had checked my levels first also), had noticed a marked improvement on my mood, obtaining better sleep and lessening my monthly migraines.

    People with this gene variant can have different symptoms or manifestations or may not have any symptoms at all. The MTHFR mutation does not affect everyone in the same way. If you don’t know if you have the MTHFR variant, a simple test to check is homocysteine levels in your blood and a quick way to treat and address this is by supplementing with folate.

    If you need personalized healthcare I am accepting new patients at Resilient Health, here in Austin, TX.

    Get in touch with me to learn more:


Check Your Boobies! It is Breast Cancer awareness Month

Check Your Boobies! It is Breast Cancer awareness Month

It’s Breast Cancer Awareness Month!

We are halfway through the month of October. Time to enjoy some of the fall weather here in Texas, Pumpkin carvings, Halloween decorations, costumes and “trick or treating”. It is my favorite time of the year. Not sure if we will do much of “Trick or treat” this year with Covid but we put up our Halloween decorations and our kids enjoy this each year. But one thing that is important to me, as a physician is creating awareness this month, for Breast Cancer.

Are you a Coffee lover or not?

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Ⓘ ⓣⓡⓤⓛⓨ ⓛⓞⓥⓔ ⓜⓨ ☕ ⓒⓞⓕⓕⓔⓔ! Actually, my genomics test showed i am a "fast metabolizer" for coffee which means i can handle several cups in a day but I only do 1 to 2 cups at the most these days.During my residency training I would even drink it cold without sugar or creamer and could spend the entire day working, without any food but had to have my coffee. I grew up in a culture where coffee was part of our everyday life and wasn’t until i went to medical school, my love and passion for coffee started. I would honestly say was drinking way too much coffee then. Not very healthy or ideal but when you need to study extra hours each day and be awake late preparing for an exam or when i was doing my calls which had quite a lot of sleepless nights in my residency, needed to have coffee to get my day going and keep working. Would drink several cups of just plain black coffee.
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Did you know there is a specific SNP (pronounced snip) that is called "Coffee Snp"? SNP stands for single nucleotide polymorphism. A SNP is a substitution of a single nucleotide at a specific position in the genome, that is present in a sufficiently large fraction of the population.SNPs may help predict an individual's response to certain drugs, susceptibility to environmental factors such as toxins, and risk of developing particular diseases.
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The CYP1A2 gene codes for the CYP1A2 enzyme, which is responsible for caffeine metabolism in the liver. A particular single nucleotide polymorphism (SNP) in this gene is a major contributory factor in determining how quickly a person metabolises caffeine. People who have the C allele of this SNP are classed as being “slow” caffeine metabolizers whereas those who don’t are classed as “fast” caffeine metabolizers. Many times we have read or heard about the benefits in drinking coffee but also people may be susceptible in having side effects or have a predisposition in suffering with heart conditions due to the amount of coffee they drink. This particularly can be a problem for those who metabolize coffee more slowly. There has been studies showing people at risk for hypertension (high blood pressure) and even suffering with a MI (heart attack) having this variant and drinking too much coffee. For them, is best to limit coffee to 1 cup (or less) of coffee per day.


I was happy to know I can keep drinking my coffee without worrying about it affecting my blood pressure or making me too anxious or restless. Do you enjoy coffee as much as i do? or you cannot have one sip of it or if you do, gets your heart racing and become restless. It can be in your genes the reason why!

Some few studies to checkout!


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482684/
https://pubmed.ncbi.nlm.nih.gov/16522833/
https://pubmed.ncbi.nlm.nih.gov/19451835/