Why You Should Watch Out For Genetic Mutations

Have you ever felt something was off in your body but were told over and over everything is “normal?” This is the case for so many people, who then can start to believe their symptoms are all in their head. However, what if there is something doctors are missing, something that may explain conditions such as anxiety, depression, chronic fatigue, infertility, cardiovascular disease and more? Well, sometimes there is. Genetic mutations are a common cause for disease within the body, however are rarely tested for. The reason for the infrequent testing is because many people have genetic mutations that do not affect their health. However, when things just don’t seem to be adding up, looking into genetic mutations can help shed light onto the underlying cause of disease.


One important gene to note is MTHFR, standing for methylenetetrahydrofolate reductase. MTHFR is a gene required by every cell within our bodies to turn folate into its active form, methyfolate (or more specifically, 5-methyltetrahydrofolate). This reaction is one step in the methylation cycle required for neurotransmitter production, detoxification, homocysteine regulation, DNA synthesis and more. Because of its necessity for so many enzymatic reactions in the body, it’s no wonder that alternations in the genes function can lead to disease.

Two of the most common mutations in the MTHFR gene are C677T and A1298C, both of which are quite common. Mutations can be heterozygous, meaning one impaired copy, or homozygous, meaning both copies are altered. This slows down the speed of the methylation cycle, and to what extent is dependent on which mutation is present and whether it is hetero or homozygous. Having a homozygous mutation can slow the methylation cycle down by as much as 70%. The consequences of this vary from person to person depending on a variety of factors including the rest of the genome, nutritional status, diet, and life stressors.


One of the key jobs of the methylation cycle is to produce DNA. If the body has inadequate levels of folate, or if folate is unable to be utilized, DNA synthesis is greatly impaired. Many foods are now fortified with folic acid, a synthetic version of folate, in an attempt to decrease infertility and birth defects caused by folate deficiency such as spina bifida. Additionally, supplementing with folic acid as part of a preconception or prenatal protocol serves the same purpose. In a women whose MTHFR gene is working optimally, this supplementation is beneficial. However, what about for women with a MTHFR mutation? Not only is supplementing with folic acid not beneficial, but it can actually cause harm to both mother and baby. The reason for this is the pathway is already working at a decreased rate, and giving the body this synthetic version of folate actually makes the cycle work even slower. Due of the importance of this cycle on DNA synthesis, it should make sense why this is detrimental when trying to have a baby. In fact, many women who suffer from infertility, recurrent miscarriages, or who have babies born with birth defects do so because of a MTHFR mutation, and unfortunately this is oftentimes never discovered or addressed.

Because of the importance of the methylation cycle on fetal development, it is crucial to be tested for such mutations if you are pregnant or planning on becoming pregnant in the future. If you have a mutation in this gene, it doesn’t mean you cannot have a successful pregnancy and a healthy baby, but it does mean you need to work closely with your physician in order to make sure you are getting the proper nutrients.

Cardiovascular Disease

Sedentary lifestyle, poor diet, smoking, excessive alcohol intake and family history of cardiovascular disease are all risk factors for conditions such as hypertension, high blood sugar, strokes and embolisms. However, what about when people “do everything right” but still have these conditions? While a lot of it boils down to the lifestyle we live, another component is in fact our genes. As a physician, we must take both lifestyle and genetics into consideration when helping optimize ones health.

One of the methylation cycles many jobs is to convert homocysteine into methionine. Methionine then goes on to from S-Adenosyl-methionine, also known as SAM, which is the body’s main methyl donor. This is crucial for all biochemical pathways within the body because it is used to turn our genes on and off, making sure our biochemical pathways are working when and where they should be.

When the body is unable to form methylfolate because of a genetic mutation, the rate at which homocysteine is turned into SAM is decreased, thus leading to increased levels of homocysteine. The clinical implication of this results in a thickening of the blood, thus predisposing a person to form clots. In this situation, a person is at increased risk for heart attacks, strokes, and embolisms. Additionally, if a woman is pregnant and has elevations in homocystine, she is more likely to have miscarriages because clots can form in the vessels supplying nutrients to the developing fetus.

Homocysteine levels can be checked in the blood to assess your risk for cardiovascular disease. If the underlying cause is a MTHFR mutation, certain nutrients can be given to bypass the altered enzyme and thus get the methylation cycle running at optimal speed. Doing so will drive down the homocysteine levels, helping to decrease the genetic risk factor for cardiovascular disease.

Mood Regulation

By now you are probably getting the impression of just how important this one biological pathway is. Not only is it necessary for pregnancy and cardiovascular disease, but also for mood regulation. If fact, a mutation in this cycle is not only a huge contributor to why so many people suffer from conditions such as anxiety, depression, and panic attacks, but it is also a reason why people fail to get better on conventional medications for such conditions.

Ok, so now for a little more biochemistry. Without the conversion of folate into methyfolate, there will be a reduced production of neurotransmitters. The body uses neurotransmitters to regulate mood. For examples, we use serotonin and dopamine to make us feel happy, and we use GABA and glycine to help calm down our system to reduce anxiety. Having a balanced mood relies upon the body being able to regulate these neurotransmitters in order to adapt to life’s various situations. When this system is thrown off, it can cause us to get stuck in one mood vs. the other. For example, some people lack adequate levels of relaxing neurotransmitters, and thus suffer from anxiety. On the other hand, people low in excitatory neurotransmitters lack the chemicals responsible for happiness, and therefor suffer from depression.

While medications can be given to drive these neurotransmitters in a particular direction, it is not always getting to the root cause of disease. In fact, because the body is unable to process these hormones, medications can sometimes make people feel worse.

Providing our bodies with the correct nutrients needed to bypass the impaired enzymatic reaction allows for better regulation of neurotransmitters. Doing so can help certain medications work better, or can even make it so a person’s body no longer needs them.


Most of us have become familiar with detoxifcation, but have you ever heard of glutathione? Glutathione is the bodies’ strongest antioxidant, meaning it is the most important nutrient for detoxing the body. Perhaps you are one of the people who seems overly sensitive to chemicals. For example, I often have people tell me that they cannot tolerate supplements or medications, or they can only take half the regular dose. Similarly, patients sometimes tell me they can only tolerate one beer while their friends can have drink after drink and feel fine. When I hear about sensitivities such as these, I always think of MTHFR as being a potential cause. As the story goes, when this enzyme is not working as quickly as it should, everything in that pathway gets slowed down, including the production of glutathione, and thus the bodies’ ability to detox.

While we live in a very toxic world, this mutation has huge implications on how a person will feel. Put plainly, he or she will feel, well, toxic. This is often the case when I see people dealing with symptoms such as fatigue, pain, brain fog, dizziness, migraines and so forth, all while being told over and over that everything is “normal.” Usually everything appears normal because genetic mutations are rarely looked at as a cause of disease.

While correcting the underlying nutrient deficiency is important, it is equally important to do so slowly. The reason for this is because since the body has had a hard time detoxifying for so many years, there is an increased toxic burden. If we push this cycle too quickly, it can overload the system and make a person feel even worse. Because of this, it is important to work with a physician who understands this process in order to keep the body safe while addressing the issue.


There are a lot of factors that predispose people to allergies, both environmental and food related. The integrity of the digestive tract, total body burden of toxins, and the state of the immune system all play a roll. Another major component is the bodies’ ability to regulate histamine. Histamine is the chemical responsible for allergic reactions. It is histamine that can cause a person’s throat to close up from eating peanuts, sinus congestion when exposed to pollens, or swelling of the skin if in contact with poison ivy. Many medications for allergies work on degrading or blocking the release of this chemical in order to control symptoms.

In addition to histamine being the regulator of allergies, histamine can also negatively affect people who have histamine intolerance, particularly when the body is exposed to excess amounts from food. The way allergies and histamine intolerance differ is that allergies are caused by a release of histamine after exposure to a particular allergen. Alternatively, histamine intolerance happens when people consume foods high in histamine but cannot properly break it down. Symptoms between the two are similar, but it is harder to realize when histamine intolerance is contributing to symptoms or conditions. For example, when someone goes outside, finds their car covered in pollen, and starts sneezing, the correlation between histamine and symptoms is quite clear. However, when histamine is increased in the body from foods, it can contribute to symptoms of nausea, migraines, asthma, fatigue, itch, swelling, urinary frequency, brain fog etc., all of which can be harder to recognize.

Both allergies and histamine intolerance can be made worse from having a MTHFR mutation. The reason for this is that methylation is required for its degradation. Lab testing can be done to see what environmental or food triggers you are allergic to. From there, you can work with your physician to create a customized nutrition program to help your body avoid your histamine triggers. And, while anyone with allergies can tell you, avoidance isn’t always a realistic option. There are specific nutrients available that can be used to help your body break down and process the histamine in order to minimize the symptoms and return your health.

Testing and Treatment

Because methylation is so crucial in the body, it should be no surprise that the list of conditions and symptoms associated with a MTHFR mutation can go on and on. The first step towards bettering your health is to find a doctor who is educated on the topic, because surprisingly information on MTHFR is yet to be common knowledge amongst the medical field. A quick saliva test can be preformed to see if you have certain mutations. If so, the good thing is it can be a relatively easy fix to correct the underlying problem, event though it all seems overwhelming and complicated. Additionally, it can bring some piece of mind knowing that your symptoms are not “all in your head.”

So, what happens after finding out your genetic status? First and foremost, a crucial part of the treatment is to determine which mutations you have. This information is the used by your physician to prescribe the proper nutrients your body needs to bypass the defective pathway. In a way, you can think of the slowed pathway as construction on the highway. It will slow down all of the traffic, which in turn can throw off the rest of your trip. Providing nutrients to bypass the pathway is like taking a detour on the highway, so rather than sitting bumper to bumper, you can just bypass it. While this doesn’t change the genetic makeup, it is a way of allowing the body to overcome the mutations.

Another aspect of treatment is nutrition. Certain foods will make traffic back up even further, while others can help redirect your nutrients to the detour. Your diet plan should be individualized to you depending on what symptoms and conditions are you experiencing, as well as what mutations you have.

A Holistic Approach

Discovering genetic mutations such as those affecting MTHFR allows your provider to get to the root cause of disease and can also help explain how many of your symptoms may be connected. In addition to looking at genetics, we need to take a step back and look at how we are living in the environment in which we create for ourselves. The food we eat, the air we breathe, and the toxicities we expose ourselves to all contribute to how our body is able to cope with disease.

The goal of treatment is to not only correct the biochemical pathways affected by mutations, but to optimize a person’s health as a whole. Having a thorough evaluation by your physician is the best way to determine the appropriate treatment plan and start optimizing your health.

Call Us Text Us