Genetics and Your Health – An Introduction to Genetic Mutations

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Genetics and Your Health – An Introduction to Genetic Mutations

genetic health conditions, genetic mutation, chronic health issues, genetic testing, genetic treatments, MTHFR, MTHFR mutations, MAO, COMT, folic acid, active folate, SNP, single-nucleotide polymorphism

Dr. Doni explains how genetic mutations are often at the root of poor health and explains how the effects can be minimized, often with very simple treatment.

Part 1 of Dr. Doni’s Series on How Genetic Mutations Affect Your Health

Many people suffer with chronic health conditions such as fatigue, insomnia, anxiety, depression, and pain. In some cases a diagnosis is determined—such as chronic fatigue syndrome, fibromyalgia, generalized anxiety, endometriosis, IBS, or autoimmunity—and medications are prescribed. In other cases, test results appear “normal,” and a person may be left feeling unwell but without knowing why.

Whether a diagnosis is given or not, understanding the underlying cause of the symptoms and the health condition itself allows us to know better what can be done to support the body to heal. If we know that a nutrient is depleted for example, we can provide that nutrient through food and/or supplements and the symptom or condition lessens or resolves. In the case of Celiac disease, or gluten sensitivity, it is removing a food (actually a protein—gluten—in food) that allows the body to heal. That is what I mean by “addressing the underlying cause.”

With low thyroid function, for example, it is one thing to provide thyroid hormone (in the form of synthetic T4 or synthroid, or as a glandular thyroid formula containing T3 and T4). It is completely another thing to identify nutrient deficiencies that may be inhibiting thyroid function, or less than optimal adrenal function, or autoimmune antibodies (known as Hashimoto’s Thyroiditis) that have been triggered by gluten and leaky gut, any of which could be decreasing thyroid function.

The difference is that when we dig deeper and understand your body and what it needs, we can often find a common cause that is leading you to feel tired, achy, anxious, and whatever other symptoms you are experiencing. The treatment then involves diet changes, and taking nutrients and herbs that address the issue, versus taking a medication that may temporarily stop the symptoms, but ends up causing other effects in the meantime. This is not to say that medications have no use, of course. They are very useful and necessary. It is simply to say that by identifying the underlying cause and making changes to the nutrients, foods, rest, water, environment that your body is exposed to on a daily basis, we can actually change the way you feel in the long term.

This is because our bodies do not all work in exactly the same way. There are genetic differences that influence the nutrients we need, the way we process those nutrients and how we respond to stress.

However, your health is not completely pre-determined by your genes. Your genes inform your susceptibilities and your body’s unique needs but the result—the way you feel—is determined by what you do with that information.

Suppose your body, based on your genetics, needs more magnesium than some other people. If you do not consume more magnesium, you are likely to experience anxiety, fatigue, and pain. However, if you do make sure you eat foods that are high in magnesium (or take supplements that contain magnesium) then your body—even with your genetically determined need for magnesium—will have less anxiety, fatigue, and pain and you’ll therefore feel a lot better.

Considering this information, wouldn’t you want to know whether your body needs more magnesium (or another nutrient)?

Testing for Genetic Mutations

It is now possible to test your genetic make-up by simply collecting and analyzing your saliva. The results of this test (your genetic panel) can tell you about your ancestry, but they also provide data that we can interpret to help us understand your unique needs. I’m going to go into more detail about the testing in my next article—you can read it here. For now, I want to focus on explaining what we can and can’t learn from a genetic panel.

Many people fear a genetic test and report. This is because we’ve heard of certain genetic tests that can predict risk of difficult and/or fatal illnesses such as cancer and Alzheimer’s disease. Psychologically, that can put a person in a position of having to make an extremely difficult choice when faced with a traumatic health issue. That’s not what we’re looking to do here. Causing more stress is not a solution.

Instead, we are looking to gain information that will help us lower stress and support your body to be healthy. The genetic reports we use simply give us a glimpse into the thousands of metabolic and enzymatic processes that occur in your body every day. These are the processes that take the nutrients from your food and make them into active vitamins that your body can use. They are also the processes that detoxify estrogens and toxins from the environment. They produce and break down the neurotransmitters that determine your mood and they affect your hormones, immune system, and digestion. That’s what we want to know in order to help your body be healthy.

What your body does with a vitamin or toxin is influenced by the two strands of DNA that make up your genes—the genes you received from your parents. This means that no two bodies will respond in precisely the same way. Based on what we have learned from the Human Genome Project, we can compare your genes and find the places where there are slight differences. Those differences are called SNPs (pronounced “snips”) or mutations. And it is these differences that help us estimate variations in the effectiveness of each pathway and process.

I want to remind you here, however, that our genes are not immediately made into reality. Our genes are completely affected by STRESS and it is only when our genes are stressed that the SNPs and variations become active and apparent. How much stress, you might ask? Well that varies too.

I’ve just been studying for a sixth grade science exam with Ella, my daughter. The test covers the subjects of weathering on rocks and soil creation. Wind, water, ice, heat, and chemicals (all forms of stress) wear away at rocks, shaping them into the soil, hills, and mountains that we see today. The climate and the type of rock determine the rate at which the rock weathers.

Humans are quite the same! Our genetics make each of us what we are (the type of rock in my analogy) and the climate—or the stresses we are exposed to—determines the rate and way in which we “weather.” ☺

Much of the time you hear me talk about stress and how we can support our bodies even while we are stressed. We can do that by minimizing our exposure to certain stresses (those stresses that we can choose), and then by supporting our bodies to recover from the stresses that we cannot avoid.

One of the best ways to support your body under stress is to find out where it is vulnerable to stress by testing for and determining your genetic SNPs.

I, for example, have a genetic SNP on both of the well-known and clinically significant MTHFR genes (A1298C and C677T). The MTHFR gene determines a person’s ability to activate folic acid into usable folate. When there is a SNP, the ability to activate folic acid is decreased. When there are two SNPs, the ability decreases further. So low and behold, with a SNP on each MTHFR gene, my ability to activate folic acid is decreased by about 40%. This means that when I consume folic acid, it is less likely to be used by my body. It is better for me to consume active folate, also known as methylfolate or 5MTHF, which is available in capsule form, as well as being present in plants like spinach.

MTHFR mutations are known to be associated with cancer risk, risk of miscarriage, and to affect sleep, mood, energy levels, and heart disease risk. And the treatment is to take active folate, 5MTHF.* Read all about MTHFR in my article here.

There are many other genes and SNPs that have a similar, important influence on health and that respond to a relatively simple treatment. MAO and COMT, for example, are other important enzymes in the body that may be affected by a genetic SNP. They both cause changes in your ability to metabolize stress hormones and neurotransmitters leaving you more likely to respond to stress and therefore more likely to feel stressed. Just what you needed, right?

It has been hypothesized that those of us with mutations on MAO and COMT likely had ancestors who responded better to stress back in time, making it more likely that their genes survived to the present day. Now, in 2015, we have different stresses and perhaps less need for the MAO and COMT mutations. Others would argue that, because people with these SNPs are likely to have higher adrenaline levels, which is needed to help get things done, it is these mutations that drive entrepreneurs and world leaders to do what they do. However, the flipside is that higher adrenaline can result in higher anxiety levels and sleep disturbances.

So there are upsides and downsides to genetic mutations. I don’t want you to walk away with a negative view of your SNPs. Instead, I encourage you to look at them as what makes you uniquely YOU. And of course, by increasing your awareness of yourself and your body, you’ll be more successful at maintaining your health over time.

Treating Genetic Mutations

It is not possible to use medications or surgery to change or fix a genetic mutation. The treatment is to provide what your body needs. It is the ultimate example of addressing the underlying cause that we talked about at the beginning of this article. By providing the nutrients your body needs while also applying the principles in my book, The Stress Remedy, you’ll be minimizing the “weathering” effect on your body—and thus increasing your quality (and quantity) of life.

In the upcoming blog posts in this series, I’ll be going into more details about some of the common, well-researched, and influential mutations, how the mutations influence each other, genetic testing, and what you can do to support your body based on your individual SNPs. Please join me by subscribing to my blog at the top right margin, or by signing up to receive my weekly newsletter where I share my blog articles.

If you would like to dive in and find out your genetic SNPs and how they relate to your health, you may want to consider my new Genetic Profiling Solutions Package. Please have a look, and send me an email here if you have any questions!

–Dr. Doni
12th March 2015

*Please keep in mind that any and all supplements—nutrients, herbs, enzymes, or other—should be used with caution. My recommendation is that you seek the care of a naturopathic doctor (with a doctorate degree from a federally-accredited program) and that you have a primary care physician or practitioner whom you can contact to help you with individual dosing and protocols. If you ever experience negative symptoms after taking a product, stop taking it immediately and contact your doctor right away.

Photo credit: “DNA Origami by Alex Bateman @sangerinstitute @emblebi” by Duncan Hull is licensed under CC BY 2.0. Changed from original: Added text overlays.

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  1. I have experienced multiples inquiries related to genetic mutations and they also somehow connects it to nuclear radiation or chemical exposures. I know, it is almost present everywhere.. in every corner. but if you could also point out how this could be one of the main causes of genetic mutation, it would be very helpful.

    – Nick Stokes

    • Thank you Nick! Yes, toxic and chemical exposure is a stress on the body – that’s the way I think of it – which makes it more likely that the mutations become an issue. I decided to write more about this in my recent blog post:

  2. First of all, I want to thank you for this information and all the effort it takes to put all of it together. I have recently come across MTHFR deficieny and Methylation issues due to my 2 grandchildren having autism (4 and 6). It is a passion of mine to research nutrition, homeopathy, etc. I have done some extensive research on autism and how it is supposed to be from vaccinations, however they are not vaccinated, or these children having been exposed to toxins. When I came across MTHFR and the methylation issues I connected the dots. I can certainly see the high inflammation in my granddaughter (esp. the vaginal, anal areas, eczema behind the ears, very red circles under the eyes when she is severely constipated). Immune system almost non-existent. But I have found hope that there is things I can do. They are on Ahcccs (government health care) and she hasn’t even gotten a proper diagnosis from a specialist, our doctors here are not very assisting in the matter. So again I do thank everyone for their efforts.

    • You’re welcome – I’m glad it was so helpful for you, and hope that your grandchildren will benefit from the information.

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