In the late-1980s, scientists discovered the first variant of the MTHFR gene through enzymatic assays of lymphocyte extracts. Over three decades later, scientists have now discovered many different variations of the MTHFR gene, also called an MTHFR mutation.
Although we understand how common an MTHFR mutation is, most people will go their entire life without ever knowing they suffer from it -- even if they’re showing obvious symptoms. Because of this, there’s a lot of confusion surrounding what an MTHFR mutation is and why we should be protecting our children from it.
To help you better understand how the MTHFR mutation can affect your child’s health, we’ll be discussing 11 of the most prominent ways it has affected people in the past. Of course, we’ll also want to go over what the MTHFR mutation is before we get into all of that.
What Is An MTHFR Mutation?
The MTHFR gene is responsible for providing a set of instructions, also known as code sequencing, for a particular enzyme in the body. Believe it or not, this enzyme is called the MTHFR enzyme. Together, the MTHFR gene and MTHFR enzyme play a role in a variety of different processes in the body.
One of the main processes in the body is converting folic acid (Vitamin B9) into its active form, methylfolate. Without this conversion, the Vitamin B9 you consume on a daily basis goes often unmetabolized and unused in the body and eventually gets excreted out of the system. Be aware of UMFA (unmetabolized folic acid) when taking folic acid, especially if you have an MTHFR mutation. Some have actually connected UMFA to cancer.
When an MTHFR mutation occurs, the MTHFR gene can’t provide the MTHFR enzyme with the right coding. This can obviously lead to the wrong instructions being given to the MTHFR enzyme, meaning it creates an incorrectly shaped enzyme that can’t be nearly as effective as it should be. This reduces or prevents the conversion of folic acid into methylfolate, which disrupts a variety of other important downstream functions in the body.
Since we also know methylfolate is a large player in the methylation process, an MTHFR mutation has often been linked to a reduction in methylation. This can lead to a wide range of health concerns and is the main source of the symptoms your child might face when suffering from an MTHFR mutation.
So, how is it possible to have MTHFR in children? Contrary to popular belief, this is something that gets handed down from one parent -- or both parents -- to their offspring.
Every living person has two copies of each MTHFR gene SNP (single nucleotide polymorphism), one that comes from the mother and one from the father. If you have one copy of an MTHFR mutation (or a single mutation), there’s a chance your children will get it as well. If you have two copies of it (often referred to as homozygous or a double mutation), you will definitely give one of them to your child. In addition, your partner can give them one as well, which is how your child might be diagnosed with two copies.
There are over seventy different variations to the MTHFR mutation and they aren’t all created equal. The two well-known variants to watch out for are C677T and A1298C.
Now that we understand a little background behind the MTHFR gene, the enzyme it creates, and some of the mutation SNPs which can occur around it, let’s look at the various effects it can have on your child’s health. We’ve broken it down into the 11 most common effects (in no particular order). This should allow you to keep an eye out for the signs and symptoms so you can manage your child’s mutation from an early age.
1. How your child reacts to vaccines and drugs.
Some studies have shown that a child suffering from MTHFR mutations could experience adverse reactions to certain vaccines, drugs, and medications. This can be extremely dangerous to a child’s health and can even result in the child developing autism. It’s worth noting that a high percentage of people who are on the autism spectrum actually have MTHFR and other methylation cycle related SNPs.
This was largely seen after testing was done on smallpox vaccines, but there hasn’t been a whole lot of research since. Considering this can put your child at risk, it’s definitely worth considering and worth the extra studies to prove it.
2. How well your child’s body can repair DNA.
When the body converts folate to methylfolate, it’s responsible for a wide range of functions in the body -- one of which being DNA synthesis, repair, and methylation. When there’s a disruption in this conversion, your child will have a difficult time repairing DNA and could experience irreparable DNA damage.
Many scientists credit DNA repair to longevity, growth, and development. Without it, your child won’t age properly and will likely face a wide range of delays in their normal development. Difficulties repairing DNA can also lead to cancer in some individuals.
3. Detoxification in your child’s body.
Detoxification in the body is primarily carried out by the liver; however, scientists have discovered that methylation plays a large role in phase two of the natural detoxification process. This primarily happens through the boosting of glutathione levels in the body - glutathione is your body’s greatest antioxidant. And Methylfolate, the active enzyme MTHFR genes create, increases glutathione in the body. Of course, any issues with methylation in the body can produce a weaker detoxification process.
Without detoxification, your body can’t properly remove pathogens, molds and toxins from the blood as well as things like BPAs and heavy metals. The longer you’re exposed to these environmental toxins, the more likely they are to cause damage and develop disease in the body. Since children are more susceptible to pathogens and toxins, a strong detoxification process is essential.
4. The production of red blood cells to prevent anemia.
Anemia occurs when there aren’t enough red blood cells in the body. This can either be due to a loss of blood, chronic breakdown of red blood cells, or lack of production of red blood cells. In regards to an MTHFR mutation, it’s possible to see the production of red blood cells decrease in children and adults.
Without proper methylation, your body won’t produce enough red blood cells -- this often occurs in conjunction with a Vitamin B12 deficiency. Anemia symptoms can cause fatigue, shortness of breath, dizziness, and even a fast heartbeat.
5. How well the brain produces and synthesizes neurotransmitters.
There’s a link between MTHFR mutations and a reduction in certain neurotransmitters in the brain (i.e., one of the more notable is serotonin). This is because mutations frequently cause an increase of homocysteine in the blood (which we’ll discuss further below). An increase in homocysteine leads to a reduction of SAMe -- which is crucial to neurotransmitter synthesis.
Some of the major neurotransmitters in question here are dopamine and serotonin, which are mood-related neurotransmitters that can cause depression and anxiety in children. Not to mention gut issues like IBS, which is often considered to be caused by ‘low serotonin’ levels in the gut. And we now know that over 80% of our serotonin resides in the gut (our second brain as some refer to it).
6. Increased risk of heart disease.
Anyone suffering from an MTHFR mutation will also have an increased risk of certain heart diseases, regardless of if they have higher levels of homocysteine in the blood. This can even include stroke, high blood pressure, deep vein thrombosis, aneurysms and more. Be sure to have your homocysteine levels checked if you know you have an MTHFR mutation(s) - these levels can be brought down with the right supplementation (L-Methylfolate and TMG/Betaine or DMG).
Congenital heart disease is the main issue with children and is one of the most common causes of death in birth defects -- which we’ll discuss in more detail below.
7. Increased risk of ADD/ADHD.
An MTHFR mutation has been a common find in many children and adults suffering from ADD/ADHD. A majority of the research supporting this has been credited to the reduction of dopamine and serotonin in the brain, as well as the decrease in detoxification in the body.
In addition to the foundational L-Methylfolate (again, the active enzyme that an in-tact MTHFR gene can make from folate - or a supplement you can take if you have an MTHFR mutation) and an active B12 form like hydroxocobalamin, NAC is a helpful nutrient for brain detoxification and neuroprotection and should be considered if you’re looking to support your child’s ADD/ADHD diagnosis nutritionally. These specialized nutrient forms can help improve the detoxification and methylation processes in the body.
8. Birth defects and Autism.
One of the biggest concerns behind MTHFR in children and pregnant women is an increase in birth defects - particularly neural tube defects. But also autism, even after the child is born. Two of the major birth defects which result from not having enough of the L-Methylfolate enzyme available to the body are spina bifida and anencephaly.
In addition to that, MTHFR mutations can also cause cleft lip, cleft palate, and tongue ties in newborns. These can affect the child later in life, as well.
9. Elevated levels of homocysteine in the blood.
We’ve mentioned the dangers of elevated levels of homocysteine in the blood. Since methylfolate -- and vitamin B12 -- are essential to the production of methionine, the MTHFR mutation can cause a lack of methionine in the blood. Methionine is responsible for reducing homocysteine levels in the blood. Less methionine in the blood means more homocysteine that will build up, and this can contribute to the many cardiovascular complications we referred to earlier in the article.
10. Increased risk of depression and anxiety.
The neurotransmitters dopamine and serotonin are largely responsible for mood management in individuals, but people suffering from an MTHFR mutation will likely see a decrease in the synthesis of these neurotransmitters in the brain. This means lower levels of serotonin and dopamine which can lead to mood disorders, mood swings (i.e., bipolar), and odd behavior in children.
11. Loss of appetite or lack of eating.
If your child isn’t eating as much as they should be -- or doesn’t have the appetite to eat regularly -- there’s a chance that a methylfolate deficiency is playing a role in these symptoms. Of course, the methylfolate deficiency could be caused by the MTHFR mutation.
The methylfolate is known to improve DNA synthesis and cell growth inside the gastrointestinal tract. It’s also worth noting that despite the increased appetite experienced when children supplement with methylfolate, there haven’t been many cases of weight gain in the children.
How Can We Treat Both MTHFR and These Symptoms?
One of the best ways to treat an MTHFR mutation is through L-Methylfolate and active vitamin B12 (methylcobalamin or hydroxocobalamin) supplementation. Keep in mind the body will be struggling to properly convert folate into methylfolate (because of the MTHFR variant), so supplying your body with exactly what it needs can bypass this process altogether.
At Methyl-Life™, we’re dedicated to making L-Methylfolate supplementation easier and safer for consumers all over the world. Children especially love our products as we have a wide range of chewable options, which makes daily compliance yummy and almost ‘fun’ for them. We provide a variety of methylfolate-only supplements, as well as methylfolate combined with other important methylation-supporting ingredients like active B12, P-5-P, B2, Magnesium, Zinc and much more to give the body maximum benefits from the many methylation cofactors.
If you’re new to the MTHFR community, check out our 4-products-in-one Beginner’s Bundle, which contains a 2.5mg Methylfolate-only small, chewable tablet, a specialized liposomal-delivery Magnesium supplement, an active Vitamin B12 supplement (Hydroxocobalamin) - again a small chewable tablet to let dissolve under the tongue for maximum absorption, and a non-methylated multivitamin (these are capsules, but we also have a chewable multivitamin product you might prefer for kids or even yourself, it’s a yummy chocolate raspberry flavor [tested and approved by our founder’s 9-year old daughter] and goes great with coffee - not for the 9-year old.
We are here to support you on your journey and would love to answer any questions you may have regarding our products. Feel free to contact us at any time to discuss how we can help you gain back some of your physical freedom!
Checkup Newsroom. “Checkup Newsroom.” A Pediatrician Goes In-Depth Into MTHFR, Checkup Newsroom, 14 Feb. 2020, www.checkupnewsroom.com/a-pediatricians-goes-in-depth-into-mthfr/.
Williams, Penny. “MTHFR: Another Piece of the ADHD-Genetics Puzzle.” ADDitude, www.additudemag.com/mthfr-adhd-genetics-puzzle/.