The field of medicine is on the verge of a possible paradigm shift.  Following the completion of the Human Genome Project in 2003, we are constantly learning more about how our genes affect our health.  And as of this year, there are commercial tests to detect individual genetic changes (mutations) that may be impacting one’s health from simple blood or saliva samples. Unfortunately, you may have heard that one of the largest commercial tests (and one of the first of it’s kind) 23&me is recently going through some FDA hurdles with regards to what they can report, but even they are still able to provide the raw data needed to decipher our genetic fingerprint.

   The field of medicine is on the verge of a possible paradigm shift.  Following the completion of the Human Genome Project in 2003, we are constantly learning more about how our genes affect our health.  And as of this year, there are commercial tests to detect individual genetic changes (mutations) that may be impacting one’s health from simple blood or saliva samples. Unfortunately, you may have heard that one of the largest commercial tests (and one of the first of it’s kind) 23&me is recently going through some FDA hurdles with regards to what they can report, but even they are still able to provide the raw data needed to decipher our genetic fingerprint.

These new genetic tests are useful for finding risk factors for illness, genetic predisposition to diseases, and even a person’s capacity to detoxify medications and chemicals is already available as a diagnostic tools for doctors to help guide treatment or influence lifestyle choices.  One of these genetic mutations that stands out  above the rest (and is still available) – is testing for the DNA mutation called MTHFR. 

Methylenetetrahydrofolate reductase (MTHFR for short) is an enzyme that converts the folic acid (vitamin B9) from our food or supplements to an activated form of folic acid – methyl folate.  I know that most peoples eyes glaze over one I mention biochemistry, but this one little conversion is a “rate limiting step”, or potential bottleneck, for an important bodily process called methylation. Methylation occurs in every one of our cells and affects some of the most important body functions. 

To simplify methylation, it is the process by which a small molecule called a methyl-group (one carbon and three hydrogens) is added to a second molecule to change its function or “activate” it.  Methylation is involved in critical reactions in the body such as repairing damaged DNA, creating mood-regulating neurotransmitters (serotonin, dopamine, & norepinephrine), the regulation of hormones, anti-oxidant function, immune and nerve function regulation, and even fetal development.  With the advent of genetic testing, we have found the MTHFR mutation to be fairly common – up to 30% of some ethnic populations!  That is 1 in 3 persons.  Someone with the MTHFR mutation, and therefore the enzyme it codes for (also called MTHFR), has reduces or severely limited MTHFR enzyme function.

Ok, yes, genetics is boring and seems complicated and academic.  Not going to argue with that.  But researchers have been studying this one particular medication since the 70’s!  So I want to share why I think this is so important and why you should care, and will do that by answering 2 questions: why is knowing this mutation important, and why should someone care?

First a basic genetics primer: DNA is in every cell in the body and has all the instructions for creating and maintaining all bodily functions.  We all have two copies of each gene in our DNA – one from our mother, and one from our father, and each of these can be normal or defective (mutated). Mutations can occur from random errors not properly corrected, from ultraviolet rays, chemical insults, the presence of heavy metals, and nutrient deficiencies.

With regards to MTHFR, having one copy of the defective MTHFR gene can reduce the activity of the MTHFR enzyme (and therefore methylation) by 40%, and having two defective copies can limit the enzyme’s activity 70%!   And methylation is important because the list of diseases potentially affected by faulty methylation is extensive.  Some of the more common include depression, anxiety, fibromyalgia, cardiovascular disease, chronic fatigue, ADHD, autism, insomnia, and neuropathy.  More severe conditions include cancer, Crohn’s disease, Alzheimer’s, Parkinson’s, neural tube defects, cleft palate, and recurrent miscarriages. The entire list includes many of the most common chronic health conditions seen by most doctors.

This is because methylation affects some of the most basic of cell functions: protection of our DNA, and determining if particular genes are turned on or off.  One popular cancer drug, methotrexate, is designed to interfere with the function of folic acid (and therefore methylation) to affect cancer cell growth because all of our cells (including cancer cells) require it to grow, divide, and repair.

Knowing our “methylation status” is also also important because many of us are not eating enough of our green leafy vegetables, which is the source of a “better” form of folic acid.  (Folate is from the latin word folium, which means leaf). So a combination of the MTHFR mutation and a poor diet can severely inhibit overall methylation. Methylation also relies on other “supportive nutrients” – the folinic acid (natural folic acid) from dark green leafy vegetables, vitamin B6 and B12 from meats, and B2 from meats, eggs, nuts, dairy, and (once again) green vegetables. 

So why not have everyone take plenty of all these nutrients and be done with it.  This is the approach pharmaceutical companies, who are now producing high dose Methyl Folate “medications”, are taking.  But it turns out that if we take too much of the synthetic or active folic acid, it can actually makes the methylation problem worse.  Why? Because it creates a situation of imbalance with the other nutrients it interacts with.  In those with the MTHFR mutation, methylation becomes a gentle balance of inputs (nutrients) and outputs (methyl groups) and too much of one or too little of the other can offset the balance.  Sometimes diet and lifestyle changes can improve this, but for those with the double mutation, the removal of substances that are inhibiting methylation as well as targeted and balanced supplementation is necessary. 

The good news is that there is a simple blood test to determine if you have the MTHFR mutation as well as treatments to help mitigate the effects! At this point in the genetic information revolution, are many genetic mutations one could potentially for, but the incidence of this particular mutation ranges from 20-40% of the general population.  With the number of body systems affected, MTHFR is one of the first genetic tests to consider.  Furthermore, if someone tests positive for one or both of the mutations, there is a high likelihood that immediate family members (mother, father, children, etc.) will have the same mutation and could benefit from a similar treatment.  Lastly, testing for the mutation in a pregnant mother could help prevent the associated conditions from manifesting in the unborn child at all!  This becomes a gift for the mother and the baby, and possibly to future generations as well.

 I say this a lot when discussing nutrition and supplementation with patients:  “Yes, X is a great supplement.  I wish we could put it in the water supply.” As a naturopath, part of my clinical toolbox is to know which herbs, vitamins, minerals, or amino acids to use for particular health concerns.  But I don’t like putting people on a “pill diet” for every concern, nor do I think it is particularly helpful. So I always attempt to focus what I prescribe. Even so, some nutrients and herbs are so universally helpful that I’d like to put everyone on them.  

Characteristics that allow a supplement to be included in this group include: near universal benefit, the ability to partly mitigate nutrient deficient diets and regular chemical exposures, and (since these would theoretically be universally applied) very good safety profiles. Of course man cannot survive on supplements alone, and I’ll be the first to say that supplements are no substitution for great nutrition.  But with that said, here is my list of nutrients that, could they be added to our water, would help save mankind! 

Curcumin:  That’s right, good old turmeric.  It’s both a staple of Indian curries and one of the best natural anti-inflammatory compounds known.  Inflammation is needed and useful in the body when for example the immune system if fighting off an infection or when you’ve sprained your ankle.  But chronic, unchecked inflammation is part of most chronic disease.  A poor diet can also be a good source of inflammation, so add turmeric to your anti-inflammatory diet. 

Vitamin D: Here in the NorthWest, I assume that anyone I see between October and June who isn’t taking D is D deficient.  But vitamin D deficiency isn’t limited to our neck of the world.  These days, most people spend the majority of their time indoors, behind glass (which blocks UV), or use sunblock when they do go outside (rightly to prevent skin cancer, which is also a concern of course). But getting enough sun helps make vitamin D, which helps drive calcium into our bones, is a powerful antioxidant, and has many hormone like functions.  It contributes to everything from cancer and heart disease prevention, to improved mood, to immune regulation. Hmm, maybe we just need more time outside…?

Probiotics:  As the Align commercial has now made common parlance, probiotics are benefical bacteria which each of us have on and in us.  While this fact makes many people squeamish, healthy bacteria in and on our bodies outnumber our own cells by 10 times. But we’re more than an incubator – we’re symbiotic. And when our bodies are regularly supplied with good bugs and these bugs are in balance, they provide a multitude of health benefits: improved digestion, production of vitamins, immune regulation, prevention of allergies and autoimmune disease, heart disease prevention, infection prevention and (for your friends and family) decreased intestinal gas.  For that reason alone, it should be mandatory!

Vitamin C:  Hopefully this one is not surprising - we could all use some extra C.  Do you know that primates, guinea pigs, and fruit eating bats are the only animals that don’t produce our own vitamin C? That means we humans need to eat it to use it.  And since Vitamin C is essentially “used up” after it soaks up free radicals (i.e. does it’s antioxidant thing), we need a continual supply.

Sulforaphane:  This supplement will likely never truly take off because it’s name is too difficult to pronounce.  But that’s a shame, because this broccoli seed extract may be one of the most powerful supplements available.  While vitamin C’s lights go out (so to speak) when it gets used up as an antioxidant, Sulforaphanes antioxidant action works on the genetic level.  This means it actually turns on genes that produce antioxidants which function for 2-3 days!  Holy helping!  And as if that wasn’t enough, these sulfur based chemicals aid with one of the 3 main forms of detoxification in the liver! To be fair, like turmeric these sulforaphanes are also present to some degree in all cruciferous vegetables (broccoli, cauliflower, brussel sprouts, cabbage, etc) but the supplemental amounts are much, much greater.

CoQ10: Although it is expensive to produce (and therefore buy), it is present in every one of our cells and part of making ATP or “energy”. But in addition to allowing us to stand and move, CoQ10 powers our cells, provides the energy to make chemical processes happen, and is an amazing antioxidant too!  And to the countless number of people on statins now (the highest selling drug in the world, ugh) CoQ10 supplementation is necessary because the enzyme that statins inhibit produces both cholesterol and CoQ10.  Limit one, and you limit them both.  (Not that cholesterol is universally bad, but that is another topic.)

NAC:  Another supplement without the most publicity worthy name, N-acetyl Cysteine is an amazing supplement and one I personally take regularly.  Why?  Because this form of the amino acid cysteine is the principle raw material for glutathione, and glutathione is the most abundant antioxidant in our body.  Want to prevent alzheimers, be more resistant to smog, and live till 100?  Take NAC. 

Methyl Folate (MF):  This is my most recent addition to the list, because before this year I didn’t know much about it.  But the more I (and others) learn, the more amazing it is.  MF (yes, ha ha) is really the active form of folic acid, and one of the main nutrients involved in a reaction called methylation.  While methylation is a rather complicated biochemical process, it essentially produces something (a methyl groups) which acts as a switch to turn enzymes on or off for little things like detoxification, making neurotransmitters (mood regulators), breaking down hormones, making antioxidants, and even the silencing and protecting genes in our DNA (those we want to stay quiet).  And while folic acid deficiency is rare in the US, many people have a genetic mutation called MTHFR that limits their ability to produce methylfolate, and modern research has found synthetic folic acid antibodies in the brain.  Yet another reason to eat your greens.

Fish oil:  Does anyone not know fish oil is amazing?  If not, see Google.

Positivity: As many of us have learned from Masuro Emoto’s and others work, positive intention has definitive physical outcomes.  The many forms of this nutrient include nourishment, healing, purifying, and even love.  Even scientific studies are showing how sometimes our perspective of an event is more important than the event itself.  And why not?  Envision your food nourishing you, your immune system protecting you, and the water you drink as purifying you. Perhaps positivity is the most important “nutrient” of all.