Many of us are living with MTHFR mutations and are unaware of our MTHFR status, and a small number of us are taking advantage of knowing the MTHFR genes we have. If you do not know what MTHFR is, or would like to learn more about MTHFR, read our introduction to MTHFR here. Certain MTHFR mutations, such as MTHFR C667T or MTHFR A129C, contribute to many health and fertility problems. This article will discuss how MTHFR mutations negatively impact the methylation pathway and vitamin B12 levels, and also offer advice on what you can do to have better health outcomes living with an MTHFR mutation.
Folate and vitamin B12 are the most important cofactors working with enzymes in the methylation cycle. The methylation cycles begins with folate. Folate is converted into its active form (5-methyltetrahydrofolate) through the folate cycle, and MTHFR is directly responsible for the creation of folates active form. MTHFR deficiencies lead to a shortage of the active form of folate within the body and negatively impacts the conversion of homocysteine to methionine. Low active folate levels can lead to a build of of homocysteine and lack of methionine in the body and can lead to several health problems (more on high homocysteine levels can be found here).
High homocysteine levels can also be caused by low vitamin B12 levels because vitamin B12 is the cofactor needed by the enzyme responsible for converting homocysteine to methionine. Without adequate vitamin B12 levels a build of homocysteine begins occuring, and can be made even worse in combination with harmful MTHFR mutations. If you are curious to find out if you have MTHFR, we have different MTHFR testing kits available.
Australia – https://mthfrsupport.com.au/product-category/test-kits/
International – https://mthfr-fertility.myshopify.com/collections/lab-tests
People living with MTHFR mutations commonly have issues with vitamin B12. They often show the symptoms of vitamin B12 deficiency, but when they get tested their vitamin B12 levels are normal. A healthy vitamin B12 level is between 500-800 µmol. You may be asking, why would a person suffer from the symptoms of vitamin B12 deficiency if they have healthy vitamin B12 levels?
The answer involves MTHFR mutations. MTHFR mutations impact the bodies ability to use vitamin B12. This happens because certain MTHFR mutations (C667T and A129C) lower the amount of active folate being produced in the body, and the use of vitamin B12 requires the active form of folate. Vitamin B12 deficiency can be occurring while vitamin B12 levels are at levels not typically associated with deficiency due to the presence of deleterious MTHFR mutations. If you are one of the unlucky people with symptoms of vitamin B12 deficiency and vitamin B12 levels within the normal range, the best things you can do would be to increase your folate intake through supplementation and eating more folate containing foods.
We sell a variety of supplements for folate and Vitamin B deficiencies that can be found here, a guide to folate supplementation can be found here, and you can learn more about what foods are high in folate here.
MTHFR mutations and vitamin B12 deficiencies commonly work together to produce elevated homocysteine levels which can damage the nervous system, leading to cognitive impairment, and increased risk of Alzheimer’s Disease and dementia. Elevated homocysteine levels are also associated with increased risk for cardiovascular issues such as strokes and heart attacks. Symptoms of vitamin B12 deficiency include: fatigue, irritability, anxiety, low energy, depression, forgetfulness, constipation, new food sensitivities, hot and cold flashes, sore muscles, pale skin, numbness, tingling, and dermatitis.
There comes a time when it’s time to take health matters into your own hands. What’s the best way to overcome vitamin B12 deficiency and elevated homocysteine levels? There a a few for of vitamin B12 supplements available on the market. We will go over each form of vitamin B12 and tell you how to determine if it’s the right one for you.
Cyanocobalamin is a form of vitamin B12 derived from cyanide poison, and for this reason should be avoided. Long term supplementation with cyanocobalamin can have systemic toxic effects on the body amd even lead to kidney failure! Another downside of supplementing with cyanocobalamin is that it’s a form of vitamin B12 that requires an extra chemical reaction to occur within the liver until it becomes something your body can use. Making it more difficult to breakdown for those living with MTHFR mutations.
Hydroxocobalamin is more bioavailable than cyanocobalamin and does not require extra reactions occuring in the liver before the body can use it. For this reason, hydroxocobalamin is recommended for people with MTHFR mutations, known methylation issues, and is the best supplement for anyone living with low blood pressure. Hydroxocobalamin should be taken as a preventative measure against complications that arise from vitamin b12 deficiencies, high homocysteine levels, and methylation issues.
Methylcobalamin is another form of vitamin B12 that does not require extra processing in the liver, making it a great alternative to taking cyanocobalamin. Methylcobalamin is often taken to improve cardiovascular problems, cognitive impairments, behavioral issues associated with autism, and circadian rhythm disturbances.
Adenosylcobalamin is great to take alongside methylcobalamin to obtain the full spectrum of benefits that can be derived from vitamin B12 supplementation. Adenosylcobalamin is the form of vitamin B12 associated most closely with improving energy levels in people who are deficient in vitamin B12.
Vitamin B12 deficiencies are fairly common, and now you have learned more about how to fix vitamin B12 deficiencies. If you are living with an MTHFR mutation, are vegetarian/vegan, or are susceptible to vitamin B12 deficiency for other reasons, you now have more tools in your tool box for understanding and dealing with vitamin B12 deficiencies. If you have troubles solving your vitamin B12 deficiency on your own, the next best step is to take what you have learned/tried to your doctor and work with them to solve your health issues associated with vitamin B12 deficiency.
However , before you go and see your doctor, it’s important to start supplementing with vitamin B12 and other B vitamins right away if you suspect you are deficient.
If you are looking for a more in-depth and personalized approach to MTHFR, vitamin B12 deficiency, or fertility issues than check out our patient resource center.
What if you could improve your health by knowing if you have an MTHFR gene mutation?
MTHFR is a gene encoding for Methylene-TetraHydroFolate Reductase (MTHFR). MTHFR is an enzyme found within the human body. Playing a vital role in how the body uses folate (vitamin B9). It converts the folate you eat, into folate your body can use (Folate → 5-methyltetrahydrofolate). The MTHFR gene has the information needed to make this important enzyme.
What Is An MTHFR Gene Mutation?
MTHFR gene mutations may contribute to serious health issues. Knowing you have one can help you start improving your health.
The MTHFR enzyme is a protein made up of amino acids. Each amino acid has a specific 3-letter code within your DNA. A mutation or single nucleotide polymorphism (SNP) changes one letter in the 3-letter code for a specific amino acid (or it could be a deletion).
An MTHFR gene mutation can replace one amino acid for another within the MTHFR enzyme, leading to a change in function. The MTHFR gene mutation alters the chain of amino acids that make up the MTHFR enzyme changing its overall shape. It’s important to understand that an enzyme’s shape gives rise to its function. So for example, the MTHFR C677T means that at place 677 on chromosome 1, the Cytosine has been changed to a Thymine. This change causes the amino acid sequence to change that makes the MTHFR enzyme.The result is a dysfunctional enzyme (it’s slower) and less 5-methylfolate production.
The overall shape of the MTHFR enzyme varies based on what MTHFR gene mutations are present. Each unique mutation has a different impact on how the MTHFR enzyme performs within the body. There are currently 34 different known MTHFR gene mutations. The two most researched mutations are C667T and A1298C, which are the mutations we focus on most.
Is There One Type Of MTHFR Gene Mutation?
Depending on the mutation you have the consequences are slightly different. Each mutation follows a similar trend towards less methylation within the body or less active folate production (5-MTHF). If a mutation is present, the enzyme can have a 20% to 70% loss of function.
Since everyone has two copies of each gene (one from each parent), loss of function depends on whether there are one or two copies of the MTHFR gene mutation present.
One copy of a gene = Heterozygous (C677T= ~40% loss, A1298C=~20% loss) (This means you have one copy from mom OR dad)
Two copies of a gene = Homozygous (C677T=~70% loss, A1298C=~40% loss) (This means you have one copy from both your mom AND dad)
One copy of both C667T and A129C = compound heterozygous = ~50% loss
(This means mom and dad each gave you one copy of C667T or A1298C)
In general, less methylation occurs in people who have two copies of an MTHFR gene mutation.
MTHFR Mutations = Less Methylation
Methylation is responsible for turning multiple processes within cells “on or off”.
Proper methylation (adding/removing methyl groups (CH3) from molecules) within the body ensures cells are doing their jobs.
Think of methylation as a master switch. Any biochemical product that ends in MT is a methyltransferase. Methyls act as a switch for methyltransferases, they make them stop and go. Methyltransferases have important biochemical roles in our bodies. For example:
When methylation is not working or down regulated, the body is not able to produce correct responses to the environment, damaging the body. Certain process within cells will be turned on or off for too long, leading to an impaired ability to:
When these vital cellular processes are not working correctly, adverse symptoms can arise such as: cardiovascular disease, impaired immunity, chronic inflammation, diabetes, anxiety, depression, chronic fatigue, cancer, fibromyalgia infertility and miscarriages. Problems with methylation will amplify the symptoms of existing autoimmune and psychiatric conditions. For a more in depth analysis about the symptoms of MTHFR mutations click here. (yes mthfr symptoms / conditions article
It is important to know if you have a mutation in the MTHFR gene. Approximately 50-65% of the population has an MTHFR gene mutation.
However, if you have a mutation, this DOES NOT mean you have a problem with your health. Your environment plays a big role in determining the outcomes of mutations, which we will go over later in this article.
Testing For MTHFR Gene Mutations
Fortunately, there are simple ways to find out if you test positive for a mutation in your MTHFR gene.
Click here to order your testing kit and to learn more.
Click here to order your testing kit and to learn more.
Managing MTHFR Gene Mutations
Knowing if you are positive for an MTHFR gene mutation is important because it may affect your biochemistry to the point that your energy, hormones, mood and detoxification systems are affected. It’s important to remember, just because you have a mutation in this gene, it may not mean you have any issues. What plays the biggest part in MTHFR mutations causing problems is your environment. What you eat, the amount of sleep you get, the stress you are under, the toxins you are exposed to, all play a role in the way your genes are expressed. Your genes are always feeding off of the environment to determine which how much a gene should be expressed and what genes to turn on/off. Working to create a stress free environment is a simple way to begin managing MTHFR gene mutations.
Over the past couple of decades science has been uncovering vast amounts of information in the field of nutritional and biochemical sciences There are some basic guidelines to managing MTHFR mutations through diet and lifestyle. These guidelines revolve around consuming foods that are easy for your body to digest, do not cause inflammation and avoiding toxins overloading the body’s detoxification systems. It is recommended that you:
Diet and lifestyle is individual. What is right for you, may not be right for the person next to you. But basic guidelines are here. Our detailed diet and lifestyle guide for MTHFR gene mutations can be found here.
Key Considerations If You Have An MTHFR Mutation
I like to think of this as exciting news! It means you have a roadmap to improving your health and stopping the progression of health issues that plague many people in later life. The earlier you address your health, the easier it is to bring the body back into balance.
Cheers,
Carolyn.
P.S. If you are looking for a more in depth explanation and management of MTHFR before pregnancy, be sure to check out our Flagship course “MTHFR and Preconception”. This 4 to 8 module course will guide you through the ins and outs of preparation your body will need to have a healthy and thriving pregnancy. Modules include what tests to expect, how to analyze the results and steps to take to prepare mentally, physically and emotionally for your pregnancy.
Some women are unfortunate enough to have Polycystic Ovarian Syndrome or PCOS despite not showing any signs or symptoms typical to this health problem. When symptoms like being overweight, diabetes or extra androgens are an issue in women’s health, we have to ask the question: What exactly causes PCOS?
PCOS will not be fully resolved unless the underlying problem is unraveled.
But what might that be?
The most common infertility disorder in the endocrine system among women of child-bearing age is known as polycystic ovarian syndrome or PCOS. This hormonal disorder interferes with the process of ovulation or more specifically, with the growth and release of eggs from the ovaries.
The eggs naturally grow in structures called follicles in the ovaries. Those are tiny sacs filled up with a fluid containing biologically-specific content. When the egg matures, the follicle cracks open to release the egg from the ovary making it available to be fertilized. This process is called ovulation.
In order for the ovulation process to run smoothly, specific hormones are necessary for normal amounts.
But women with PCOS have higher levels of the so called “male” hormone – androgen. That is what stops the follicles from breaking open and releasing the eggs and leads to irregular or absent periods. The filled up follicles end up in the ovaries as cysts. That makes it increasingly difficult and more challenging to conceive, but not impossible.
Early diagnosis and adequate treatment can be helpful in controlling the symptoms and preventing long-term problems.
A healthy MTHFR enzyme is crucial for our well-being. However, in some people with an MTHFR gene mutation, the enzyme does not produce sufficient methyl folate which has a negative effect on hormones.
When functioning correctly, the MTHFR enzyme is involved in many different crucial processes in the body such as detoxification, producing energy, repairing and building DNA and RNA, building immune cells, repairing cell membranes, processing hormones and many others. In other words, its job is to make sure that everything in the organism is going “according to the plan”.
Properly functioning ovaries require an efficient folate pathway.
Any reduction of the folate/homocysteine pathway efficiency could increase the risk of PCOS. The homocysteine-methionine cycle runs in conjugation with the folate cycle, and therefore any changes in either of the metabolic cycles may disturb the balance between them.
When you have polycystic ovary syndrome (PCOS), you must be aware that this disorder is not only within your ovaries and can have many metabolic influences on weight, blood sugar disturbance, excess male hormones etc. This is a complex systemic disorder that requires a comprehensive approach.
One of the main problems is that women with PCOS have predispositions for higher homocysteine levels than other healthier women. In general, the most common cause of elevated homocysteine levels (hyperhomocysteinemia) is reduced activity of MTHFR, which causes low folate. There may also be low B12, low B6 and/or low zinc which is a cofactor for the conversion and regeneration of homocysteine back to methionine.
Elevated homocysteine level may be the result of a genetic predisposition, despite the dietary deficiency of folate.
The most commonly known inherited risk factor for elevated homocysteine levels are the genetic mutations in the MTHFR gene. The mutation appearance impairs the ability of our body to process folate.
We all have 2 MTHFR genes, one inherited from each parent. Usually, mutations must be present in both copies of a person’s MTHFR genes (or to be “homozygous” for the mutation) for any damaging effect. If the mutation is present in just one of the MTHFR genes, it is “heterozygous” for the MTHFR mutation.
One of the most common mutations in the MTHFR gene is the C677T variant. The homozygous variants may down regulate folate by as much as 60-70%. With this lack of folate, the person is more susceptible to having reduced methyl groups which will affect all the things we discussed above, like hormones, sleep, mood, detoxification and much more.
Some research suggests that as much as 60% of the population may have a variation in the gene. This certainly doesn’t mean that everyone with the variation will have an issue, however, it is important to investigate if you have hormonal issues like PCOS, endometriosis, fibrocystic breast, fibrocystic ovaries or fibroids.
Increased homocysteine, aside from the MTHFR genetic variation, may make people more susceptible to other conditions like cardiovascular disease, increased risk of coronary artery disease (CAD) and blood clots in the arteries and veins. Abnormal clotting may also mean that women who are pregnant may be more susceptible to miscarriage.
PCOS is associated with overweight, diabetes, excess androgen hormones. Studies show that many women with PCOS have the MTHFR gene variation. Many studies worldwide are trying to find the link between these conditions. Researchers are interested in the association between the MTHFR C677T polymorphism with PCOS. The research suggests that these two may be related to thrombophilia and heart disease.
The message should be that those women who have been diagnosed with PCOS or have had miscarriages, should check to see if they have the MTHFR gene.
Endocrine Disruptors (ED) are a group of synthetic, man-made chemicals that have permeated many/most aspects of our modern lives.
Known to have negative effects on the reproductive system, endocrine disruptors have the capacity to damage or kill cells, influence genetic expression and alter the production or balance of estrogen and androgens in the female and male bodies. Hence, ED’s have been labeled with carcinogenic, mutagenic and reprotoxic capabilities.
Those with the MTHFR gene are particularly vulnerable to the negative effects of ED exposure, as one of the primary organs affected by the mutation is the liver, with levels of our primary antioxidant, glutathione, then depleted/ reduced. For anyone with a positive MTHFR mutation, it is paramount to support liver function, phase II detoxification pathways especially. As products containing ED’s only serve to place a further burden upon the liver, it is especially pertinent to avoid these products and remove them from the home.
As defined by the National Institute of Environmental Health Sciences, endocrine disruptors can:
As fertility and pregnancy require the delicate balance and interplay of both female and male hormones to be working optimally, it is no surprise that any chemical or substance that impacts the body’s hormonal balance will then negatively impact fertility also.
The NIH also states that research does show endocrine disruptors may pose the greatest risk during prenatal and early postnatal development when the fetuses organs and nervous system is developing.
As aptly summarized by the WHO:
- Together, the animal model data and human evidence support the idea that exposure to EDCs during fetal development and puberty plays a role in the increased incidences of reproductive diseases, endocrine-related cancers, behavioural and learning problems, including ADHD, infections, asthma, and perhaps obesity and diabetes in humans.
- In adults, EDC exposures have recently been linked with obesity, cardiovascular disease, diabetes and metabolic syndrome.
- In certain parts of the world, there has been a significant decrease in human fertility rates, which occurred during one generation. There is also a notable rise in the use of assisted reproductive services.
- An increasing number of chemicals to which all humans in industrialized areas are exposed have been shown to interfere with hormone synthesis, action or metabolism.
Below is a list of common endocrine disruptors. It is advised to remove these completely from your home wherever possible and move toward natural and organic alternatives.
1/ Eat fresh foods instead of processed, and buy food items loose/bulk over packaged. This will vastly reduce the level of phthalates and BPA the body is exposed to via food packaging.
2/ Buy foods and beverages packaged in glass wherever possible.
3/ Eat organic wherever possible, reducing your exposure to endocrine disruptors in pesticides. Refer to the Environmental Working Group’s list of the Dirty Dozen (best bought organic) and Clean Fifteen (OK to consume in conventional form).
4/ Filter all water that will be cooked with or drunk in the household to remove any pesticides, herbicides or hormonal/pharmaceutical residues present in the water supply. A good quality water filter will also remove chlorine, fluoride, microbes, and impurities.
5/ Avoid all products that use synthetic fragrances e.g.all fragranced personal care products such as perfumes, moisturizers & body washes, air fresheners, room sprays, car air fresheners, deodorizers and household cleaning products.
6/ Avoid using dryer sheets and fabric softener.
7/ Use a low chemical, eco-friendly dry cleaner over commercial.
8/ If you are exposed to a high level of fire retardants and formaldehyde’s in the home or car (e.g. if they are new or renovated), consider a vacuum cleaner with a HEPA filter, avoid reupholstering old furniture and allow time for the house to ‘settle’ if replacing flooring before re-entering. Keep doors & windows open as much as possible to allow these chemicals to leave the house as soon as possible.
9/ Replace all nonstick cookware with eco-friendly options. Never use plastic containers to store hot foods, or food at all if possible. BPA and
10/ Never use plastic containers to store hot foods, or food at all if possible. BPA and phthalates easily leach into food when exposed to heat, making heating foods in the microwave in plastic highly unsafe.
11/ Convert storage containers over to glass or stainless steel. These containers with plastic lids for ease of transport are still ok.
12/ Avoid the use of plastic wrap and baking paper where possible.
13/ Eliminate all synthetic and chemical based skin care, personal care and makeup from the household. Convert all products over to natural and organic alternatives. With between 60% – 90% of what is put on the skin absorbed into the body, if you wouldn’t drink your liquid foundation, would you put it on your skin?Convert all
14/ Convert all household cleaning products over to natural based.
15/ Convert all drink bottles over to stainless steel or glass versions. ‘BPA free’ bottles and containers still contain xeno-oestrogens and endocrine disruptors and will begin leaching into the water as they age.
16/ Avoid toys high in plastic around the home, choosing more eco-friendly and sustainable materials, such as wood. Read more on BPA effects on fertility.
In my current series of preconception webinars, I am not surprised by the number of women joining me who have had multiple miscarriages or who are currently having IVF (often unsuccessfully). They didn’t know they had the MTHFR gene and even after multiple pregnancy losses, still were not checked for the gene. Eventually, they sought the answer themselves.
Folate is critical for DNA methylation and cell division. As a result, it’s also important for the proper development of ova, or egg cells, that can successfully implant in the uterus.
But when we say folate what do we mean?
Well, think of ‘folate’ as an umbrella term. Under that umbrella, there is folic acid (the synthetic man made form), folinic acid which is an important cofactor for healthy DNA creation, and our active folate, called5-MTHF (methyltetrahydrofolate).
In IVF and fertility issues, doctors and specialists alike are still recommending a high dose 5mg folic acid supplement to remedy a MTHFR mutation.
We also have mandatory folic acid supplementation in all our commercial bread and in many of our breakfast cereals, juices, protein bars, shakes, and energy drinks. So researchers are now looking into what these high doses are doing to us.
You all know that those with the MTHFR gene mutation are counseled into avoiding folic acid. The reason is that folic acid has the potential to build up and inhibit our DHFR enzyme, which is crucial in our folate pathway. Some research has also shown that unmetabolized folic acid builds up and affects our immune system negatively too.
But now we know more! Some really interesting studies on folic acid were released in the latter half of 2015 that specifically focused on folic acid. These studies looked at the 5mg dose of folic acid to see how it affected fertility. Now, this is interesting to me, because many of our patients in the clinic have been prescribed 5mg of folic acid in response to their doctor seeing a MTHFR C677T homozygous result, or to prepare their body before they start IVF cycles.
So let’s take a closer look:
We know that fertility is decreasing world wide and we have to ask ourselves why. Sure we have a more toxic environment than ever before; yes we are more stressed than previous generations and have worse diets and fewer nutrients in our soil. But a recent study completed in the Human Molecular Genetic Journal at the end of 2015 showed some interesting information. They looked at DNA methylation of the sperm when they gave folic acid. The researchers trialed 5mg of folic acid in infertile men and acknowledged that serum folate concentrations increased significantly after 6 months of folic acid supplementation. They also noticed a slight, but non-significant increase in sperm numbers, but the surprising thing is that they found a ‘significant loss of methylation across the sperm epigenome’, and more so if you were homozygous for the MTHFR C677T mutation.
What is more alarming is that the researchers suggested that this loss of methylation in sperm DNA might be transmitted to the offspring. So what they are saying is that folic acid at high doses not only decreases the fertility of men by negatively affecting their DNA, but also that these effects may be passed onto the child.
Is this significant? Could this be adding to the infertility effect we are seeing in men?
In the Clinical Journal of Nutrition in 2015, Karen Christensen found that high folic acid consumption reduces MTHFR protein and activity levels, creating a pseudo MTHFR deficiency in mice.This deficiency affects liver cells ability to metabolize fat and affects cell membrane integrity. That’s why we often see elevated cholesterol levels in people with MTHFR deficiency and issues with egg integrity in women undergoing IVF.
Another study looking at folic acid supplementation in people with the MTHFR gene going into IVF also revealed some interesting data. This Swedish study found that the higher the folic acid intake, the higher the plasma folate. Overall, the conclusion was that ‘high folic acid intake did not seem to assist infertile women to achieve pregnancy after fertility treatment’.
It’s the same result as above for the men.
So we seem to be getting more of the same. Yes, folic acid is going to increase serum folate levels, that much makes sense. However, it does not help DNA methylation, that’s why it’s not helping fertility.
Methylation of DNA is what controls our fertility. Just because we’ve always done something doesn’t make it right. There should be a worldwide review of folic acid supplementation in fertility treatment. There is enough research emerging to have a review of existing protocols.
Find out more about the study.
Founder MTHFR Support Australia
BPA or Bisphenol A is a common chemical found in plastics and has been in large scale industrial use since the 1960’s.
This chemical is found primarily in two substances – polycarbonate plastics and epoxy resins, with consumers then exposed to BPA via using plastic storage containers, drinking from plastic water bottles, eating foods wrapped or stored in plastics, receiving dental sealant to prevent tooth decay, eating canned goods (BPA coats the inside of cans) and also via bottle tops, water supply lines and paper receipts.
BPA poses a threat to our health as it a synthetic xeno-oestrogen, a compound that mimics or imitates oestrogen in the body. As we are widely exposed to this chemical in our modern day diets, lifestyles and environments, BPA has shown the power to enter the body and disrupt the hormonal balance in both males and females.
This has huge implications for fertility, with in utero exposure to Bisphenol A (or similar compounds) linked with developmental, behavioral and reproductive abnormalities in the fetus, infant, and children.
A recent analysis of data found BPA to affect the brain development and sexual differentiation and behaviour of offspring exposed to BPA at environmentally relevant doses. Genes encoding oestrogen receptors were altered, as were parts of the cortex (in males) and hypothalamus (in females) in the brain.
Overall, the research suggested BPA was having an effect on the health of offspring and children exposed to BPA, leading to changes in social behaviour, and a reduction in sexual dimorphism, or, obvious differences in appearance between males and females.
While BPA affects both men and women, due to its oestrogenic effect, the impact of prolonged exposure can carry an increased risk for men. Higher BPA levels have demonstrated a 20% reduction in fertility in men and a negative impact on the prostate of male infants.
It is also important to note that purchasing and using ‘BPA Free’ products does not shield consumers from the negative effects of this xeno-oestrogen, with BPS, the compound used to commonly replace Bisphenol A in ‘BPA Free’ products, having a similar effect on the body.
Bisphenol A: most common bisphenol. Also known as:
2,2′-bis(4-(2,3-epoxypropoxy)phenyl)propane = 2,2′-[(1- 3 2 methylethylidene)bis(4,1-phenyleneoxymethylene)]bisoxirane
2,2-Bis(4-hydroxyphenyl)propan = 4,4′-isopropylidenediphenol
Bisphenol S: compound commonly used to simply replace Bisphenol A in ‘BPA-free’ products.Also disrupts the endocrine system. It’s chemical/ alternative name:
4,4′-sulfonylbisphenol,bis(4-hydroxyphenyl)sulfone
Bisphenol B, C, E, F, G, M, P, PH: other oestrogen mimicking chemicals in plastics and resins.
TMC and Z: other oestrogen mimicking chemicals in plastics and resins
It is important to remember that those with the MTHFR gene are particularly vulnerable to the negative effects of Bisphenol A exposure, as one of the primary organs affected by the mutation is the liver, with levels of our primary antioxidant, glutathione, then depleted/ reduced. For anyone with a positive MTHFR mutation, it is paramount to support liver function, phase II detoxification pathways especially. As products containing BPA/plastics only serve to place
As products containing BPA/plastics only serve to place a further burden upon the liver, it is especially pertinent to avoid these products and remove them from the home. MTHFR Support Australia recommends removing all/ as many BPA-containing items from your home, and begin making swaps to healthier options that will ensure the health of your genes, methylation and that of your future children to come!
Roundup is a popular brand of herbicide by Monsanto and has been making rounds not because of how great a product it is but because of its active ingredient: Glyphosate, a compound declared carcinogenic by the International Agency for Research on Cancer or IARC.
It’s household popularity is not just what makes it dangerous. It made headlines when people found out Roundup was being used on GMOs (Genetically Modified crops). Research has also linked it to antibiotic resistance and hormone disruption. Because of this, many governments are considering banning or at least restricting the use of the substance particularly in public places such as school districts.
Monsanto introduced Glyphosate in the US in 1974 and was originally used to kill weeds by blocking proteins essential to plant growth. It’s now a common herbicide in more than 160 countries with a reported use of at least 1.4 billion lbs. (635 million kg) annually. While this is mostly sold for home use, it’s mostly applied by the agricultural sector on corn, soy, and cotton crops, especially in the US.
Its use skyrocketed after seeds were genetically engineered to tolerate the chemical. Because these seeds produce plants that are not killed by glyphosate, farmers can apply the weed killer to entire fields without worrying about destroying crops.
Glyphosate has been linked to the following diseases/conditions:
The EPA is reviewing its approved uses of glyphosate while countries such as Sri Lanka has banned it. Brazil is considering a similar move. Mexico and the Netherlands have imposed new restrictions, and Canada has just begun a process to consider new rules.
As for Australia, it may take a while for our government to follow suit .
What can you do to make sure you homocysteine does not become a problem? If homocysteine is a problem, what do you do?
B vitamins, folate and TMG all work in the body as cofactors with enzymes. Enzymes need specific cofactors bound to them in order for them to function. Vitamin cofactors make the metabolizing homocysteine possible. It does not matter if you have mutations in enzymes such as methylenetetrahydrofolate reductase (MTHFR) or beta-homocysteine S-methyltransferase (BHMT) that reduce your body’s capacity to metabolize homocysteine. If your body’s enzymes do not have a sufficient amount of vitamin cofactors to use, you are going to run into problems because your enzymes are not working for you, they are working against you.
Managing homocysteine levels through supplementation can help normalize the long term effects of genetic mutations affecting homocysteine metabolism. For example, If you have the C667T MTHFR mutation you will have about 25% higher homocysteine levels than people with a properly functioning MTHFR enzyme. You will benefit from adopting a specific supplementation strategy by ensuring your enzymes will always have access to the necessary vitamin cofactors. Often, medical professionals test homocysteine levels neglecting genetic mutations that are strongly influencing homocysteine levels like MTHFR mutations. We recommend to everyone they get checked to see if they have an MTHFR mutation. MTHFR mutations do not directly cause the problems of too much homocysteine but are the root of the problem. An MTHFR test should be given to anyone who is trying to get pregnant or suspects they may have hyperhomocysteinemia. The metabolically inefficient nature of MTHFR mutations leads to a buildup of homocysteine within the body.
Too much homocysteine leads to hyperhomocysteinemia. A condition increasing the likelihood of adverse events during pregnancy such as pre-eclampsia, placental abruption, neural tube defects (NTDs), Intrauterine growth retardation (IGR), recurrent pregnancy loss, and fetal death in utero. Hyperhomocysteinemia also contributes to the development of cardiovascular issues and mental illness.
At first glance, trying to understand homocysteine can be overwhelming. In the graphic below you can see many reactions taking place. We are going to be focusing primarily on reactions relating to homocysteine (located in the bottom right corner). You can see that methylfolate (5-MTHF) is the end result of the folate cycle (folate → 5-MTHF). The process of converting homocysteine to methionine is called methionine salvage and the converting homocysteine into cysteine is called transsulfuration. We will go over both the processes of methionine salvage and transsulfuration in detail.
The enzyme methionine synthase, along with its cofactor B12, catalyzes the reaction between 5-MTHF and homocysteine. This process produces methionine. If there is not enough B12 available in the system, or not enough 5-MTHF, methionine salvage will take much longer or will not happen at all. Not enough methionine synthase activity leads to less methionine salvage. Less methionine salvage leads to less methionine production and a buildup of homocysteine. When homocysteine begins building up, you become at risk for developing hyperhomocysteinemia that can lead to a variety of health related conditions.
Methionine is an essential amino acid, meaning it cannot be made by the body. The standard American diet contains high levels of methionine because meat contains high levels of methionine. Unless you are vegetarian, vegan, or have a deficiency in hydrochloric acid (HCL) production, you do not need to worry about being deficient in methionine. Methionine plays a role in the formation and maintenance of blood vessels, cartilage, and is an important building block of many proteins such as melatonin (helps you fall asleep) and carnitine (fat metabolism). Foods containing high levels of methionine include:
Methionine is the precursor molecule to s-adenosyl methionine (SAM), the primary methyl donor. Low levels of SAM results in major methylation problems throughout the body. When SAM donates a methyl group it turns into s-adenosyl-l-homocysteine which is then made back into homocysteine.
Cysteine is made by homocysteine through two metabolic reactions and is the process of transsulfuration. First homocysteine is made into cystathionine, through a reaction between homocysteine and cystathionine beta-synthase (CBS), an enzyme using vitamin B6 as a cofactor. Cystathionine goes through another reaction with another enzyme called cystathionine gamma-lyase (CGL) to produce cysteine. When cysteine reacts within the body is does so through oxidation, meaning it donates electrons to other molecules for the formation of new molecular bonds.
Cysteine is a highly reactive molecule participating in many reactions throughout the body. It contains a sulfur group allowing cysteine to form strong bonds with other molecules. Cysteine contributes in the formation of many functional proteins in the body. The most important of these proteins is glutathione. Glutathione is a powerful antioxidant made from cysteine, glutamate, and glycine. Life without glutathione would not be possible. It is vital for survival.
There are two potential pathways for homocysteine to go down. It can be made into methionine with the help of the MTR and BHMT enzymes or made into cysteine. Depending on the biochemical environment within your cells and within your body overall, one of the two pathways will be given priority over the other. Both pathways require different enzymes and different B vitamins that work together to give your body methionine, cysteine and/or glutathione to use.
There are essential B vitamins we need for our folate and homocysteine metabolism to run smoothly. The major pathway to make homocysteine into methionine requires B12 and the minor pathway requires betaine-homocysteine S-methyltransferase and TMG as a cofactor. Both enzymes responsible for the major and minor pathways transforming homocysteine into methionine require cofactors that are B vitamins (B12 and trimethylglycine) Homocysteine to cysteine requires vitamin B6. If at any time there is too much or too little B vitamins, this system can easily become unstable. Making sure you are getting the proper amount of B vitamins is important for keeping the folate and cysteine pathways functioning optimally.
MTHFR Symptoms are brought on by MTHFR gene mutations and commonly underlie many health problems.
With a few simple changes and some professional advice, you may be able to alleviate some symptoms laid out in this article. MTHFR is often overlooked. New research is showing how important it really is. You may be shocked to find out how many symptoms are linked to MTHFR gene mutations.
MTHFR gene mutations may lead to less methylation in your body. Less methylation means that a variety of complex biochemical changes can change over time, leading to health problems. Since everyone is unique, (for example family history, lifestyle, diet etc..) symptoms arising from MTHFR mutations vary from person to person.
Fortunately, depending on how your MTHFR mutation is affecting you, you can see vast improvements in your health by treating MTHFR mutations and restoring methylation. Knowing you have a gene mutation is the first step to treating MTHFR symptoms associated.
Common medications may be reducing your ability to methylate by lowering B12 or overall folate levels. If less B12 and/or folate is available to use in your body, symptoms may become worse. Medications that could be interfering with your B12 and folate levels include:
MTHFR mutations cause widespread undermethylation throughout the body. Undermethylation is responsible for an enormous amount of health conditions that prevent you from living life to its fullest. Below you can find a comprehensive list (organized categorically) of conditions associated with undermethylation:
If you want to take back control of your methylation cycle right away, supplementing is a great way to fight back against your MTHFR gene mutation. Care must be taken when supplementing to ensure symptoms do not worsen. To get started now, you can take a look at our “How to get started with MTHFR supplements” video below, or, download our guide on how to start supplementing MTHFR products.
P.S. Carolyn has also prepared a full overview of the MTHFR Gene Mutation and Management. Grab a good spot to listen and take some time to educate yourself with this Patient Webinar, exclusive to our audience. In this video, Carolyn gives you a thorough overview of MTHFR and symptoms related.
Without them, life would not be possible. Put simply, methyltransferases are enzymes responsible for adding and/or removing methyl groups from molecules within the body.
A methyltransferase is similar to a light switch. If you want to turn the lights on or off in a room, you flip the light switch. You flip the switch up, you get light. You flip the switch down, the light turns off.
Methyltransferases function the same way in the body as a light switch. They add a methyl group to a molecule, to activate or deactivate its function. The addition of a methyl group turns on or off the lights so to speak. But what carries the signal from the switch to the light bulb? The answer is S-adenosyl methionine (SAM).
If methyltransferase is the switch to turn on and off processes in the body, what carries the signal from the switch to the light bulb? SAM. SAM is responsible for physically passing off or donating the methyl group to another molecule. SAM does this by working alongside methyltransferases as a cosubstrate (SAM forms a complex with the methyltransferase enzyme). SAM donates the methyl group to the molecule, protein or DNA/RNA targeted by the methyltransferase, undergoing the following reaction:
S-adenosyl methionine (SAM) → S-adenosyl homocysteine (SAH)
SAH then feeds back into the SAM-e cycle and is made into homocysteine. From here homocysteine is converted back to SAM by the MTHFR enzyme. 5-MTHF donates its methyl group to homocysteine making it become methionine and 5-MTHF becomes tetrahydrofolate (THF).
Genomic Regulation
Genome methylation (regulation) is the main source of gene expression control. Methylation plays a role in determining which genes are put to use and which genes remain inactive. DNA methylation is crucial for survival. Methylation on the level of the genome, allows the body to respond quickly to its environment.
Of course, the body can deal with stresses in a variety of ways. Ensuring your body handles stress efficiently is the job of methylation. The body always wants to use the least amount of energy to get the job done. Regulating the genome through methylation helps processes within the body stay efficient. You do not always want your body making something from your DNA that is not useful to have all the time. Every methylation process in the body involves adding or removing a methyl group. Problems arise when the body is unable to utilize methyl groups by adding/removing them from molecules and enzymes, playing a large role in some human diseases.
Methylation activates and deactivates DNA when needed by altering the structure of the genome through adding or removing methyl groups. Over time sections of DNA become methylated and gene expression changes. The study of changes in gene expression over time due to methylation is a field of genetics called epigenetics.
Protein Regulation
Methyltransferases play a role in activating and deactivating proteins within the body. If some proteins were active all the time, the body would pay a high cost. The human body is quite resilient but things can get thrown off balance quickly and become problematic. Protein regulation through methyltransferases makes sure the complex biochemistry within cells remains stable.
Methyltransferases regulate proteins beyond activation/deactivation. When a protein becomes methylated it can gain a new function and/or start working with another protein. Allowing proteins to have multiple functions. Methylating proteins increases their range of possibilities making them more flexible, dynamic and ready to respond to changing conditions.
Methyltransferases are miracle workers within the body, they keep it functioning and not functioning at the right times. Keeping your methyltransferases healthy by making sure they have the right vitamin cofactors to work with will go a long way towards the journey of better health and successful pregnancy.