MTHFR and Functional Genomics

Functional genomics sets the stage for the personal roadmap to each individuals biochemistry.

I am Dr Heidi Hook, Naturopathic doctor and I am in my 3rd decade of practicing naturopathic medicine and what drives me to know more is that I am just curious about why people are healthy and why some are not. I just absolutely love the subject that I am going to share with you today… Functional genomics. Why? Because there is so much to learn , it is an exploding field and because it helps me with understanding why people are so different and why one person can do well on a certain supplement and why another person won’t.  Functional genomics sets the stage for the personal roadmap to each individuals biochemistry and that is what is so exciting to me.

So, for me, I explain it like this…It is one thing to eat healthy, exercise, get enough sleep, and live a healthy lifestyle and reap the rewards by feeling good. And it is another thing to do all those things and still not feel good or end up with the same diseases that your parents had. This is when patients come in and feel helpless and hopeless. So….Genetically speaking you are 1/2 your mom and 1/2 your dad and nothing can change that……that is a done deal. Your genetics effect the enzymes that regulate your biochemistry by either up regulating them or down regulating them…basically making them run faster or slower. Having a “genetic variant” means that either your mom or dad or both gave you one variant, if they had one to give. If you have one variant then we say you are heterozygous and if you have 2 variants then we say you are homozygous. Depending on which gene that is being effected, having 1 or 2 variants can effect the enzyme by 30 to 70%…meaning the enzyme will run 30-70% slower or faster.  (It is important to know that just because you have a genetic variant, does not mean that it is turned on and affecting you.) No one knows for sure when or if the genetic variants get turned on but it is thought that stress and poor diet over time can be a factor in what turns these genetic variants on. We can get an idea if the genetic variations are turned on by looking at someones signs and symptoms and by testing the nutrient status. The nutrient status is so crucial because the nutrients are the cofactors that are needed by the enzymes to run a biochemical pathway. If the nutrients are low then it doesn’t matter if there is a slow enzyme because it is the low nutrients that are causing the issue. Once we know that the nutrients are available then this is where things get really exciting because we know that we can’t change your genes, but, if we know your genetic variations then we can change up to 70% of how they manifest, by either giving the enzyme that your body is having a hard time making or giving the bi-product that the body is having a hard time making or just supporting the pathways with nutrient cofactors and herbs to optimize the pathways.

This can all get complicated because all these biochemical  pathways are interconnected and interdependent on each other. And giving a nutrient in an upstream pathway can have disastrous results downstream if there are nutrient deficiencies and/or genetic variations downstream. It is like opening a dam up when there is a log jam downstream. This is why some people can take vitamins and feel OK and others feel horrible when taking the same vitamins and nutrients.  This is also why having a health care professional that is trained in functional genomics can be very helpful in navigating thru the biochemical pathways to optimal health.

One example of a well known genetic variant is MTHFR which is one of the enzymes that converts the folate which is from dark leafy greens and folic acid ( the synthetic form of folate) into the activated form of folate which is 5MTHF or methyl folate. Saying that something is “activated” means that the nutrient is in the form that the body can use.  If there is a genetic variation in the MTHFR, then someone may have a difficult time making activated folate and MTHF is an important foundational nutrient. When folate is low then this increases the risk of heart disease, cancer, depression, inflammation and other chronic diseases. But, (and here is where it gets tricky) it isn’t that simple to just add Methyl folate. In order for methyl folate to be used in the methylation cycle, zinc and Methyl B12 are the needed cofactors that have to be available. If these are low then adding methyl folate will not be helpful.  And some people can  also have a genetic variant at the enzymes that converts B12 to methyl B12 and so they will usually be low in Methyl B12 due to genetic variants. This is why testing nutrients is so important….and not testing nutrients just in the serum because that relates to 1 % of what is in the body at that one point in time when the blood was drawn. Testing nutrients at a cellular level tells me the nutrient status of the last 4-6 months. This is what I need to know.

Ok, back to methyl folate. One reason we have to be careful with blindly taking too much  Methyl folate is because it is upstream from other pathways, so giving high doses of Methyl folate may be like opening the dam up so to speak and that creates a flow downstream. If downstream there are “log jams” or genetic variants creating slowed enzyme function or there are nutrient deficiencies (meaning that the enzymes will be slowed because they don’t have the needed cofactors to function optimally) then you can feel worse  such as worsening anxiety, anger, irritability, fatigue, pain… So, even though you may need methyl folate and methyl B12,  taking too much can make you worse.

I want to take a moment to discuss the difference between Methyl folate and folic acid. These are two different kinds of folate but they are not interchangeable. Methyl folate is what your body makes from dark leafy vegetables and is the usable form.  Folic acid is the synthetic form of folate that the body still has to convert it to methyl folate in order to be used by the body. I almost never recommend folic acid because it actually slows 2 of the enzymes needed in the pathway to make methyl folate.

Now let’s talk about B12. There are 4 types of B12 but only 3 types that your body needs. Adenosyl B12, Hydroxy B12, and Methyl B12.  Most of the supplements on the market have the 4th type which is CyanoB12. This is a synthetic form made by combining Cyanide to B12. Yep, you read correct….cyanide! So when you take it, the body pulls a hydroxy B12 to take care of the cyanide. Needless to say, this really is never a good choice. Always look at the label and choose a supplement that has Methyl folate, and one of the bioavailable B12’s.

Knowing your MTHFR status is very important but it is also  just one piece of the puzzle. There are so many enzymes that we are looking at to complete the picture. Let me give you an idea of what this means and what knowing your functional genomics can do for you.

  • We can look at the genetic variants the help a person detox at a cellular level.  We can see if you have issues detoxing environmental toxins. If these variants are present, then detoxification is slowed. If the body can not detoxify then it will need to store the toxins in the fat. Adipose tissue or fat, is the storage place for toxins. I always say that if you want to lose a pound of fat then you need to detoxify a pound of toxins. For instance,  these are the people with multiple chemical sensitivities and can’t be around perfume, smoke, cleaning products etc…. We can see if there are issues breaking down estrogens which then increases the chance of having PMS, heavy menses, uterine fibroids and any estrogen related cancers.
  • We can look at the variants that affect your body’s ability to break down inflammation….Yes this is VERY exciting! One way to think about this is we live… we eat food…. our body makes itself healthy and happy…. and we also have biochemical exhaust. This biochemical exhaust is inflammatory.  It is like driving a car… you put gas in and you can drive down the road and as you drive, the car creates exhaust.  Some have less inflammation, like they are driving an electric car and others have more inflammation, like they are a car that needs a new muffler. Our bodies do the same thing in our biochemistry. The good news is, is that the body also has its own enzymes to break down this inflammation. It is these enzymes that can have genetic variants that can slow the breakdown of the inflammatory byproducts. The exciting thing is, is that we can actually take some of these enzymes orally and support these pathways to decrease inflammation. I actually see this to be pretty common. When someone says you have inflammation, what exactly are they talking about?… I mean which chemicals in the body are causing inflammation? What I am talking about specifically here is super oxide and hydrogen peroxide. And if these don’t get broken down adequately then they get turned into Peroxinitrite and a hydroxy radicals which are like machine guns of inflammation to your gut, adrenal glands and your nervous system. By giving the enzymes SOD and catalase and making sure all the nutrient cofactors are available like minerals and glutathione then we can actually biohack the pathway and get it back up and running and inflammation goes down. For some of my patients with these variants this is a life changer.
  • We can look at the genes that cause imbalances in our neurotransmitters. Anxiety, insomnia, irritability and depression are way too common symptoms in todays day. And it just doesn’t have to happens much as it does.  We can actually see if you are prone to having low serotonin which is the main calming… feel good neurotransmitter. When serotonin is low one can feel overwhelmed, sad, having insomnia, and just needing to “go to bed and pull the covers over your head’ …or needing to be by yourself in nature. When serotonin is adequate then you can feel like you are in your bubble of wellbeing. There is little more distance from stress. We can test to see if you are slow to break down epinephrine or adrenaline so that when there is a trigger, you tend to stay in an adrenaline spin too long which can cause anxiety, insomnia and eventually heart palpitations. We can see if you make more glutamate than most which can cause irritability when too high. We can even see if you tend to have more empathy than most….meaning you feel others more or others can have a more negative impact on you. And also meaning that you will ego thru your serotonin faster. 

What I see in my practice is that when a patient tests their genetics and we get those results, I can explain to them why they may be experiencing anxiety, depression, insomnia, or  irritability, from a  biochemical  perspective and they can see it, right there in black and white. At that point, it is much clearer and they take a deep breath with a sigh of relief. They become empowered to know what their body needs to be happy. They can take nutrients to optimize  and change their biochemistry by up to 70 %. They find hope and help in being the person that they always knew that they could be.

Again, this field of functional genomics is an exploding field. New information is always being discovered every day and what I just talked about today just starts to scratch the surface of what we know.

Bottom line is that knowing your genetic variations can give you a head start and a personal roadmap to helping you achieve your optimal health.

Stay tuned, there’s more to come.

Dr. Heidi Hook

Dr. Heidi Hook, ND

Born and raised in Auburn, California. Dr. Heidi Hook is a 1996 graduate of Bastyr University and is the owner of Auburn Naturopathic Medicine. Her practice focuses mainly on discovering the underlying causes of illness that is specific for each person.

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