MTHFR and Polycystic Ovarian Syndrome

Is there a link between Polycystic Ovarian Syndrome (PCOS) and MTHFR gene mutations?

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?

What is polycystic ovarian syndrome (PCOS)?

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.

Connection: MTHFR and PCOS

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.

Concerns: PCOS, MTHFR and homocysteine

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.

You can get your home MTHFR gene test here

References

1. MTHFR C677T polymorphism is associated with hyperlipidemia in women with polycystic ovary syndrome. Madhu Jain, Priyanka Pandey, Narendra K Tiwary,1 and Shuchi Jain J Hum
   Reprod Sci. 2012 Jan-Apr; 5(1): 52–56. doi: 10.4103/0974-1208.97802 PMCID: PMC3409921

1. Polycystic ovarian syndrome and thrombophilia. G. Tsanadis, G. Vartholomatos, I. Korkontzelos, F. Avgoustatos, G. Kakosimos, A. Sotiriadis, A. Tatsioni, A. Eleftheriou and D. Lolis
   Hum. Reprod. (2002) 17 (2): 314-319. doi: 10.1093/humrep/17.2.314

1. Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study, Meta-Analysis and Trial Sequential Analysis. S. Justin Carlus, Saumya Sarkar, Sandeep Kumar Bansal, Vertika Singh, Kiran Singh, Rajesh Kumar Jha, Nirmala Sadasivam, Sri Revathy Sadasivam, P. S. Gireesha, Kumarasamy Thangaraj, Singh Rajender
   Plos one|doi:10.1371/journal.pone.0151510 March 16, 2016

Endocrine Disruptors, Health & Fertility: How They’re Affecting You

Is your home filled with hormone, MTHFR and fertility friendly products?

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.

Source

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:

Using Folic Acid Supplements in Fertility Treatments

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.

Folic Acid Supplements in Fertility Treatments

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

Bisphenol A: Why It’s Bad and How to Avoid It

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.

Source

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.

Source

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.

Source 1 | 2

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.

Types of Bisphenols/ xeno-oestrogens in plastics:

What Is Glyphosate And How Can It Affect Our Health

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.

Glyphosate use

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.

The effect of Glyphosate to our health

Glyphosate has been linked to the following diseases/conditions:

1. Gastrointestinal disease

• The action of glyphosate as an antibiotic may alter the gastrointestinal microbiome in vertebrates, which could favor the proliferation of pathogenic microbes in humans, farm animals, pets and other exposed vertebrates. Basically, by destroying the Shikamate pathway in plants (and we eat these plants, and animals feed on them) our gut microbiota is affected and we are seeing a reduction in Lactobacillus among other things.
• Glyphosate-contaminated soybean feeds used in the pork industry have also been associated with elevated rates of gastrointestinal-health problems and birth defects in young pigs. Related impacts have been observed in poultry.

2. Obesity

• It has been proposed that the exponential increase in the production of synthetic organic and inorganic chemicals may be causal in the current worldwide obesity epidemic, due to alterations in body chemistry that promote weight gain.
• The shikimate pathway is the route for aromatic amino acids phenylalanine, tyrosine and tryptophan. Tryptophan is an essential amino acid, meaning that mammalian cells cannot synthesize it. Serum tryptophan depletion leads to serotonin and melatonin depletion in the brain. Since serotonin (derived from tryptophan) is a potent appetite suppressant, it follows that serotonin deficiency would lead to overeating and obesity.
• As we have seen, tryptophan supplies could be depleted both in plant-based food sources and through impaired tryptophan synthesis by gut bacteria as direct effects of glyphosate. The observed 20-fold increase in the synthesis of tryptophan-derived polyphenolic flavonoids in the context of glyphosate provides strong evidence of impaired tryptophan synthesis.

3. Cobalamin deficiency

• Species of Lactobacillus and Bifidobacterium have the capability to biosynthesize folate, so their disruption by glyphosate could contribute to folate deficiency. Either cobalamin (B12) or folate deficiency leads directly to impaired methionine synthesis from homocysteine, because these two vitamins are both required for the reaction to take place. This induces hyperhomocysteinemia (high homocysteine). Because a deficiency in cobalamin can generate a large pool of methyl-tetrahydrofolate that is unable to undergo reactions, cobalamin deficiency will often mimic folate deficiency.
• We depend on our gut bacteria to produce cobalamin, and impaired cobalt supply would obviously lead to reduced synthesis of this critical molecule. Glyphosate is known to chelate or bind to metals like iron, copper, cobalt, molybdenum, zinc, and magnesium. It has also been proposed that chelation by glyphosate of both cobalt and magnesium contributes to the impaired synthesis of aromatic amino acids in Escherichia coli bacteria. Thus, it is plausible that glyphosate similarly impairs cobalamin function in humans by chelating cobalt. In addition is severely affecting our zinc, molybdenum, iron, copper, manganese, and calcium in foods and the body.

4. Cancer

• Despite most studies saying it’s generally not cancerous, one study on breast cancer conducted by Thongprakaisang S et. al. confirms at least one connection.
• Glyphosate exerts proliferative effects only in human hormone-dependent breast cancer, T47D cells, but not in hormone-independent breast cancer. The proliferative concentrations of glyphosate that induced the activation of estrogen response element transcription activity were 5-13 fold of control in T47D-KBluc cells.
• This activation was inhibited by an estrogen antagonist, ICI 182780, indicating that the estrogenic activity of glyphosate was mediated via ERs. This indicates both low and environmentally relevant concentrations of glyphosate possessed estrogenic activity.
• Recently Stephanie Seneff (the world’s most significant researcher of Glyphosate) released a paper discussing the link between glyphosate and cancer. In this paper she says “glyphosate has a large number of tumorigenic effects on biological systems, including direct damage to DNA in sensitive cells” she goes on to say that “epidemiological evidence supports strong temporal correlations between glyphosate usage on crops and a multitude of cancers that are reaching epidemic proportions, including breast cancer, pancreatic cancer, kidney cancer, thyroid cancer, liver cancer, bladder cancer and myeloid leukaemia”

5. Infertility

• Glyphosate has been described as an endocrine disruptor affecting the male reproductive system.
• Glyphosate toxicity was proposed to implicate CA(+2) overload, cell signaling misregulation, stress response of the endoplasmic reticulum, and/or depleted antioxidant defenses, could contribute to Sertoli cell disruption in spermatogenesis that could have an impact on male fertility.

6. Kidney disease

• The strong association of the consumption of hard water and occurrence of chronic kidney disease has been subjected to many discussions among investigators, but none of the available theories could explain this relationship coherently.
• Glyphosate is metabolized via the glyoxalate pathway. When this pathway is inundated more oxalate is formed and this is a direct cause of kidney disease. Oxalates are naturally occurring substances found in a wide variety of foods and although they play a supportive role in the metabolism of many plants and animals when they over accumulate inside our body, they can form stones in the kidney. They bind to calcium and can also interfere with calcium metabolism.

What now?

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 .

So what can we do?

1. Avoid genetically modified foods
2. Eat as organically as you can
3. Avoid canola oil
4. Avoid processed foods
5. Regularly check key nutrients that may be depleted by glyphosate – copper, zinc, iron, manganese, magnesium, cobalt (B12) and sulfur
6. If you have a family history of kidney stones or gall bladder issues consult someone who knows about oxalates and glyphosate to get yourself assessed.
7. If you have a family history of thyroid disease, you may have oxalate issues
8. If you have gut issues, particularly low lactobacillus you may have oxalate/glyphosate issues.
9. If you have recurrent diarrhea you may have oxalate issues.
10. If you are juicing lots of high oxalate foods like spinach, beetroot, carrot, and celery these may disturb kidney function. My motto is ‘if you can’t eat it on a plate then don’t juice it. That means that if the amount you juiceis too much for you to sit down and eat at the one meal, you are having too much.
11. I suspect those with chronic iron issues may have an oxalate/glyphosate problem. Because oxalates will bind to iron making it unavailable.
12. DEFINITELY DON’T USE ROUNDUP AT HOME!!!!!

If you are preparing your body for a healthy and thriving pregnancy, we have a free pregnancy checklist of the “10 most important things you need to do before you become pregnant” 

 

References

MYERS JP, ANTONIOU MN, BLUMBERG B, ET AL. CONCERNS OVER USE OF GLYPHOSATE-BASED HERBICIDES AND RISKS ASSOCIATED WITH EXPOSURES: A CONSENSUS STATEMENT. ENVIRON HEALTH. 2016;15:19.
BAILLIE-HAMILTON PF. CHEMICAL TOXINS: A HYPOTHESIS TO EXPLAIN THE GLOBAL OBESITY EPIDEMIC. J ALTERN COMPLEMENT MED. 2002;8(2):185-92.
BREISCH ST, ZEMLAN FP, HOEBEL BG. HYPERPHAGIA AND OBESITY FOLLOWING SEROTONIN DEPLETION BY INTRAVENTRICULAR P-CHLOROPHENYLALANINE. SCIENCE. 1976;192(4237):382-5.
ZHAO J, WILLIAMS CC, LAST RL. INDUCTION OF ARABIDOPSIS TRYPTOPHAN PATHWAY ENZYMES AND CAMALEXIN BY AMINO ACID STARVATION, OXIDATIVE STRESS, AND AN ABIOTIC ELICITOR. PLANT CELL. 1998;10(3):359-70.
ROSSI M, AMARETTI A, RAIMONDI S. FOLATE PRODUCTION BY PROBIOTIC BACTERIA. NUTRIENTS. 2011;3(1):118-34.
THONGPRAKAISANG S, THIANTANAWAT A, RANGKADILOK N, SURIYO T, SATAYAVIVAD J. GLYPHOSATE INDUCES HUMAN BREAST CANCER CELLS GROWTH VIA ESTROGEN RECEPTORS. FOOD CHEM TOXICOL. 2013;59:129-36.
JAYASUMANA C, GUNATILAKE S, SENANAYAKE P. GLYPHOSATE, HARD WATER AND NEPHROTOXIC METALS: ARE THEY THE CULPRITS BEHIND THE EPIDEMIC OF CHRONIC KIDNEY DISEASE OF UNKNOWN ETIOLOGY IN SRI LANKA?. INT J ENVIRON RES PUBLIC HEALTH. 2014;11(2):2125-47.
SAMSEL, A., & SENEFF, S. (2015). GLYPHOSATE, PATHWAYS TO MODERN DISEASES IV: CANCER AND RELATED PATHOLOGIES. JBPC JOURNAL OF BIOLOGICAL PHYSICS AND CHEMISTRY, 15(3), 121-159. DOI:10.4024/11SA15R.JBPC.15.03

How the MTHFR gene mutation Affects fertility and pregnancy

One of the most common things I hear is the utter confusion many people find themselves in after they:

• Just discovered the MTHFR gene mutation and fell down an internet rabbit hole try to research and understand it all
• Were tested for it but received no explanation on its effects
• Were prescribed treatments that instead of helping made them feel worse
• Were told it may be one of the facets playing a role in their present health issues, but have no idea what it is

With the wealth of scientific (and at times confusing and complex) information found online surrounding MTHFR, it is no wonder many end up going around in circles and getting confused!

This is can be especially amplified in the case of those searching for clear and reliable information when it comes to the MTHFR gene mutation effects on fertility/preconception and pregnancy, as they are both very important topics where the health of both mother and child can rely on thoroughly understanding this vital information!

This article aims to plainly spell out what MTHFR actually is in the scope of preconception and pregnancy, both highlighting its general role in the body, and a vital role both before and during pregnancy.

So, What Is MTHFR

MTHFR stands for methylene-tetrahydrofolate reductase.

It is an enzyme in your body that converts the folate you eat (like in leafy greens and legumes) into the active form called 5-MTHF, or, 5-Methyltetrahydrofolate.

This means, that if you have a mutation in your MTHFR gene, the ability for your body to create healthy levels of active folate will be affected or decreased. This will result in less active folate available for your body to use in several very important processes.

This is where the link between MTHFR gene mutation, preconception and pregnancy arises. Several of the vital processes that we need active folate for are highly active during times of preconception and pregnancy and need to be working well to support a healthy pregnancy.

During preconception and pregnancy, you need good levels of active folate for:

• Creating healthy DNA for both you and your future child. This is the biggest reason why knowing your MTHFR gene result is so important. Active folate is directly involved in the synthesis of new DNA. And while we have a constant demand for the production of new and healthy DNA, you can imagine that demand for this hugely increases during pregnancy, when you are growing a new life! Issues with not enough healthy DNA available for both mother and growing child can result in issues with pregnancy, fetal growth, and general childhood development.
• Preventing levels of a substance in the body called homocysteine from climbing too high, which can be related to blood clots and increased risk of blot clot formation during pregnancy.
• To create molecules called ‘methyl groups’, which act as instruction manuals for your DNA and cells, telling them the correct way to ‘behave’, so they do not do anything unwanted (e.g. cause disease or dysfunction within the body). We need healthy levels of these methyl groups to methylate/instruct your DNA, and without it cells are uncontrolled and can start to cause problems.
• Formation of red blood cells, white blood cells, and platelets, which are all vital for both the health of the mother during pregnancy and also for the health of the child during pregnancy and after birth as they begin to rapidly grow and come into contact with bacteria and pathogens to strengthen their immune system.

As you can see, addressing and supporting your MTHFR genes during your preconception phase is the best way to healthily support both your body once you fall pregnant, and the growth and development of your new baby.

Knowing your MTHFR gene result and supporting your folate levels where needed is a key step in preconception, and both should not be undervalued!

Carolyn Ledowsky,
Founder of MTHFR Fertility

PS: 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.”

A Century-Old Procedure Offers New Hope

Does Flushing The Fallopian Tubes Increase Fertility?

Recently, infertility was brought into the spotlight throughout the medical community. Specifically, they were highlighting a century’s old procedure and the success rate experienced by couples trying to conceive around the world: flushing the fallopian tubes.

This is an old procedure that is over 100 years old. The technical name for this procedure is “Hysterosalpingography (HSG). The procedure involves flushing the fallopian tubes with iodized poppy seed oil and then undergoing an X-ray to get images of the uterus and fallopian tubes.

Sometimes the medical community gets lucky and stumbles upon new scientific discoveries, HSG is a great example of this. It was originally intended to be an imaging technique, but it turns out HSG might be making women more fertile!

In a study done in Canada, 1,119 infertile women underwent HSG treatment and 40% of the women who received HSG treatment with poppyseed oil fell pregnant within 6 months compared to 29% of women who received an HSG with water. That is a big difference in pregnancy rates between HSG poppyseed oil and HSG water treatment groups. The poppyseed oil group experienced a conception rate that was 11% higher than the water HSG treatment group.

Many of our patients at MTHFR Support and Fertility are using this procedure in combination with our preconception program with great success. You can read more about this procedure and the research at Medical News Today.

Polyphenols and Phenols – Prenatal Exposure – What you need to know & 5 Practical Tips

If you’re reading this, you probably already have some sense of what phenols are, and what they do. But if you have no idea what phenols are, here is a quick overview of Polyphenols and Phenols and Prenatal Exposure

What Are Phenols and Polyphenols?

Phenols are a large class of chemical compounds. They play a role in regulating cell growth and adipogenesis (The process of cells specializing to become fat cells), by interacting with nuclear receptor sites (the location where hormones collaborate with cells).

The hydroxyl group on phenols is what makes them have unique properties. They can bond tightly with oxygen and have a reactive oxygen-hydrogen bond at the same time. These chemical characteristics give rise to some potentially beneficial effects (from NATURALLY occurring phenols) within the body such as:

• Antioxidant

• Anti-ageing

• Cancer prevention

• Improved cardiovascular health

Types Of Phenols 

There are two types of phenols you can find: natural and synthetic. The benefits come from naturally occurring phenols, which are absorbed into the body through the food you eat. Healthy, naturally occurring phenols come from fruits and vegetables, primarily in the form of flavonoids (a polyphenol).  It is important to understand the difference between Polyphenols and Phenols and Prenatal Exposure.  Polyphenols are the most beneficial phenols to consume. You can find high polyphenol concentrations in the following foods listed here.

Naturally occurring phenols and polyphenols are powerful compounds that are beneficial to the body but are not fully understood by science. You will never get too many polyphenols from over eating fruits and vegetables, so don’t worry about these phenols; worry about synthetic phenols!

Synthetic Phenols: What You Need To Know

What Do They Do?

Synthetic phenols may pose some health risks during pregnancy and to overall health. They have the ability to act as endocrine (hormonal) disruptors by interacting with the following hormone receptors [2]:

Glucocorticoid receptors

• Play a role in: development, metabolism and immune response

Thyroid receptors

• Play a role in: development, heart rate and metabolism

Estrogen receptors

• Play a role in: development, gestation, gene regulation, metabolism and behavior

Where Are They Found?

• Solar filters
• Cosmetics
• Antibacterial soaps
• Polycarbonate plastics
• Epoxy resins

Polyphenols and Phenols – Prenatal Exposure To Synthetic Phenols

Synthetic phenols may pose a risk to pregnancy. The risk of synthetic phenols to development and pregnancy arises from their ability to mimic important hormones within the human body. They interact with cell receptors, causing changes to basic processes within the body.

In 2012 and 2014, researchers looked at what effects prenatal exposure to synthetic phenols had on the growth of boys, during and after pregnancy [4,5]. They looked at: Benzophenone-3, Parabens, Triclosan, Bisphenol A and dichlorophenol levels at 12, 22.5 and 32.6 gestational weeks through urine sampling concentrations. The researchers analyzed how phenol concentrations were affecting biparietal diameter (BPD) during pregnancy. BPD is the standard measurement to assess fetal size. BPD measures: head circumference, abdominal circumference and femur length. They sampled 520 mother-son pairs from April 2003 to March 2006 at Poitiers and Nancy University hospitals in France. The results of their studies are summarized below:

Benzophenone-3

• Common ingredient in sunscreens and lotions
• No association with BPD during pregnancy but a few days after birth there is a positive association with head circumference

Parabens

• Common additive in many products (see link for more information)
• Higher paraben concentrations lead to increased weight at birth
• Methylparaben is positively associated with weight and abdominal circumference at 36 months

Triclosan

• Found in soaps, shampoos, deodorants, toothpastes, cleaning supplies and pesticides
• Reduces all measurements of BPD in late pregnancy
• Reduces head circumference at birth
  • Head circumference is used to predict brain volume [1]
• In animal studies triclosan disturbs thyroid receptors which alters fetal growth and brain development [3]

Bisphenol A (BPA)

• Found in plastics and epoxy resins
• Found no clear association between Bisphenol A and BPD growth parameters at birth or 6-months
• Positively associated with weight at 12, 24 and 36 months
• Positive association with waist circumference, BMI and risk of being overweight at the age of 4 but not earlier [6]

Dichlorophenol

• Found as an intermediate chemical in advanced chemical manufacturing processes for the production of herbicides
• Negatively associated with abdominal circumference at 32.6 gestation weeks and positively associated at 36 months
• Positive association with weight between 24 and 36 months but not after 36 months

***Negative association means that as the concentration of the phenol increases, the growth parameter decreases***

***Positive association means that as the concentration of the phenol increases, the growth parameter increases***

5 Practical Steps To Reducing Exposure To Synthetic Phenols

• Write a list of synthetic phenols and check the ingredients of products around your house. When it comes time to replace the product, try and one that does not contain a synthetic phenol on your list.

• Use water bottles and Tupperware that are BPA free

• Buy fruit and vegetables that have no or low exposure to herbicides

• Use natural, synthetic phenols free cosmetic products when possible

• Shampoo

• Deodorant

• Make-up

• Lotions

• Buy Triclosan free cleaning products

Take Aways 

The relationship between phenols and pregnancy is in its infancy. Some studies contradict each other, but general trends are emerging about how different phenols can have an effect on biparietal diameter (BPD). Properly measuring phenols are difficult because phenol measurements are made based on urine samples, and certain phenols will degrade before they can be accurately measured (short half-life), plus phenol release from the body is periodic. Due to the volatility and unpredictability of phenols in urine samples, studies looking at how phenol exposure relates to pregnancy are likely subject to exposure misclassification, meaning that researchers may be drawing the wrong conclusions from their data. We need bigger studies with larger samples sizes and better techniques for measuring phenol concentrations.

Even if we are still waiting on more research to happen before drawing final conclusions surrounding phenols and pregnancy, is it worth the risk to take no action towards reducing phenol exposure if you are looking to become pregnant or are currently pregnant? The answer is no! Phenols play a complex role in the body by mimicking important hormones. At high enough concentrations phenols pose, not only a risk to your pregnancy, but to your general health!

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 course includes information on compounds to avoid, a comprehensive look at the prenatal process and will guide you through the ins and outs of preparation. Modules include what tests to expect, how to analyze the results and steps to take to prepare mentally, physically and emotionally for your pregnancy. For more information, check it out here. 

Introduction To MTHFR Mutations

If you have heard of MTHFR mutations before but didn’t know where to start. This article is for you! It will give you a foundational understanding of biology while introducing you to MTHFR and fertility.

What Are Genes?

Genes are the deoxyribonucleic acid (DNA) sequences responsible for making proteins and enzymes. Gene expression is the process of the body actually using the gene to produce a protein or enzyme. Many factors contribute to gene expression and gene expression changes throughout life. For example, gene expression is different before puberty and after puberty, or before menopause and after menopause. Gene expression also changes due to psychological, environmental and dietary factors.

What Are Genetic Mutations?

DNA is made up of four building blocks: adenine (A), thymine (T), guanine (G) and cytosine (C).  Genetic mutations are changes within a sequence of DNA. For example, an “A” might change to a “C”, or a “T” might be removed/added to a DNA sequence. There are multiple forms of genetic mutations that are beyond the scope of this article. It is important to know that genetic mutations mostly have negative consequences on the performance of their products (i.e enzymes).

What Are Enzymes and Why Are They So Important?

Enzymes are proteins that help build, break down, and/or speed up biochemical reactions within the body. Some chemical reactions would take days, weeks, or months to happen, but enzymes make these reactions happen much faster. Without enzymes, life as we know it would not be possible. Chemical reactions would be too slow within the body, and we would not have the capacity to produce the necessary chemicals for survival.   

What Is MTHFR?

MTHFR stands for Methylenetetrahydrofolate reductase. The MTHFR enzyme is made from the MTHFR gene. The MTHFR gene contains the genetic information required to make the MTHFR enzyme. It is the enzyme responsible for the final step in the folate cycle. When the MTHFR enzyme is not functioning properly, there is a shortage of important biochemical substances and a build-up of harmful substances within the body. MTHFR gene mutations impair the body’s ability to perform many crucial tasks.

How Common are MTHFR  Mutations?

Some people, approximately 30-50% but some research shows possibly 70-75%, have genetic mutations in their MTHFR gene (3). As more people have their genomes sequenced around the world, we will get a better understanding of how prevalent MTHFR mutations are around the world.  Different populations of people around the world have different frequencies of MTHFR mutations, for example, the highest concentration of  MTHFR C667T mutations in the world are found in Italy (1). These mutations affect the ability of the MTHFR enzyme to complete the final step in the folate cycle. MTHFR mutations lead to a complex cascade of biochemical reactions that cause a wide variety of health and fertility issues.

Consequences Of The MTHFR Mutations On Health And Fertility

According to a new scientific review published in July 2017, in the Journal of Genes and Genomics, MTHFR mutations play a role in the following multifactorial diseases (2):

• Cardio-cerebrovascular
• Neurodegenerative disorders
• Autoimmune diseases
• Diabetes
• Neuropsychiatric disorders
• Renal diseases
• Cancer
• Birth defects

The health consequences of MTHFR are so far-reaching because the MTHFR enzyme is crucial to basic functions within our bodies. If you are wondering how one gene/enzyme can have such a wide variety of consequences, without getting too involved in the science, you need to gain a basic understanding of how MTHFR mutations actually create health and fertility problems.

Understanding MTHFR Mutations

There is not just one kind of MTHFR mutations there are several (MTHFR C667T and A129C are most common). Each mutation lowers the functionality of the MTHFR enzyme to varying degrees. Having an MTHFR mutation is like your body building a single lane bridge in the middle of a busy city when the bridge should be at least four lanes wide. It significantly reduces the number of cars (i.e biochemical reactions) that can use the bridge at one time and creates a traffic jam on both sides (i.e build up of biochemical products).

Take Aways

Hopefully, you now have a basic understanding of MTHFR. If you are looking for more information on MTHFR, there are multiple articles surrounding how MTHFR Mutations affects your overall health and fertility that can be found below:

• High homocysteine – It can affect your brain, your heart and your pregnancy.
• Why is Knowing You Have the MTHFR Gene Mutation Important in Preconception and Pregnancy?
• 5 Common MTHFR Symptoms and How to Manage Your Gene Mutation

 

References

1. Botto, L. D., & Yang, Q. (2000). 5, 10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. American journal of epidemiology, 151(9), 862-877.
2. Cristalli, C. P., Zannini, C., Comai, G., Baraldi, O., Cuna, V., Cappuccilli, M., … & La Manna, G. (2017). Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders. Genes & Genomics, 1-11.
3. De Mattia, E., & Toffoli, G. (2009). C677T and A1298C MTHFR polymorphisms, a challenge for antifolate and fluoropyrimidine-based therapy personalisation. European Journal of Cancer, 45(8), 1333-1351.