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So far, we have revealed two pieces of the PCOS BIG PICTURE, Stress [HYPERLINK to STRESS article] and Depression [HYPERLINK to DEPRESSION article].

Remember, the BIG PICTURE is a part of a Functional Medicine Approach, i.e. understanding ALL the pieces of the BIG PICTURE that may be affecting you and contributing to your PCOS symptoms. In today’s article, we are going to reveal another potential piece in your PCOS BIG PICTURE, MTHFR.  

As you come to understand each piece, you will see more and more how looking at your BIG PICTURE and which pieces may (or may not) be involved is critical to identifying the root cause of your PCOS condition and symptoms.


What is MTHFR and what does it have to do with PCOS?

The MTHFRgene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins.

Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9).
This reaction is required for the multistep process that converts the high risk amino acid homocysteine to a more neutral amino acid, methionine. The body then uses methionine to make proteins and other important compounds.

Although linked to many systems and processes in the body, I will focus on three (3) interrelated chemical processes that can specifically affect or relate to your PCOS condition or symptoms.  While this process is technical, we can simplify.

You will see from the way in which these processes are related that they themselves are part of an MTHFR CONNECTION, each process affecting the next, acting in a domino effect and potentially impacting and interacting with your PCOS symptoms.

The 3 processes are:

#1 – the “folate conversion process” – as mentioned, the MTHFR enzyme is needed to convert alternate forms of Vitamin B9 (folic acid) into a form accessible to the body (folate) for use by #2 AND #3 below

#2 – the methylation (and demethylation) process used to convert chemicals in the body for use (or removal)

#3 – the “homocysteine breakdown process” to convert the amino acid homocysteine to methionine, thus neutralizing its harmful effects.

There are certain individuals with a mutation or defect on the MTHFR gene.  This means that they are NOT able to execute these 3 processes most or all the time.  What happens if you cannot execute these 3 processes?  That’s where the connection to the PCOS BIG PICTURE comes in. This is why testing for the MTHFR mutation/defect is an absolute MUST for a woman suffering with PCOS and where some of the symptoms such as anxiety, depression, sleeping disturbances, hormone imbalances and detoxification problems are connected to PCOS.

How does MTHFR and its functions relate to PCOS?

The biggest concern, especially for women with PCOS, is with the two most studied and tested MTHFR mutations, C6777T and 1298C, and the effect they may have on homocysteine levels in the blood.

First, you must understand that homocysteine is an amino acid that is marker for inflammation, as studies have shown that it is linked to a wide range of health problems, and is a known  independent risk factor for heart disease, stroke and other forms of cardiovascular disease. It is naturally formed in the body, but gets broken down (recycled) by L-methyfolate (the active form of vitamin B-9 (folate)).  You must also understand that studies have also shown that higher homocysteine levels and the resulting inflammation in the body are common in women with PCOS (the inflammation causes polycystic ovaries to produce excess hormones).

The concern when you have a mutation in your MTHFR gene, and your body cannot convert and use folate (Vitamin B9] properly (regardless of how much you consume) are twofold:

1) your body cannot breakdown homocysteine.  The result is elevated homocysteine levels (and disease risk) in the body (as we see in women with PCOS).

2) your body cannot breakdown other toxins and waste, including hormones, properly.  This leads to a buildup of these substances in the body, including hormones (as we see with PCOS).

In addition, a bad situation is made worse because, at the same time, when  homocysteine levels are high, methionine (the neutralized form of homocysteine) levels are low and two additional major processes are affected that could have an impact on PCOS symptoms.

First, because methionine is a key component in the production of the body’s primary “master” antioxidant (glutathione); lower levels of glutathione compound and increase inflammation already caused by high homocysteine levels.

Second, methionine is also a key component in the production of a chemical (SAM-e) that is the key to the “feel-good” chemicals dopamine, serotonin and melatonin; the resulting decrease in dopamine, serotonin and melatonin again leads to increased inflammation AND mood issues such as depression, anxiety and insomnia, all of which are common symptoms of PCOS.

How can you get more answers on how MTHFR plays a role in your PCOS BIG PICTURE?  

The 3 processes reviewed above and the associated results highlight the importance at looking at multiple factors (i.e. THE PCOS BIG PICTURE), as each can affect the other.

Testing and evaluation for the MTHFR genetic defects and mutations is critical, especially given the number of mutation variations (C6777T and 1298C, homozygous vs heterozygous, compound or not).  This needs to be combined with  testing related amino acid imbalances, heavy metals, Vitamin deficiencies, especially B9 (folate) and B12] as well as homocysteine levels.  These tests can help determine the impact of an MTHFR mutations with PCOS or your symptoms.  

(NOTE: You may remember from our PCOS BIG PICTURE and Depression article that a diet deficient in amino acids and B-vitamins (Vegans and Vegetarians), especially Vitamin B6, can also result in low levels of dopamine and serotonin and symptoms of depression.)  This will lead to an effective diagnosis and treatment plan that will treat the root cause and may not require the use of drugs.

Some final thoughts about THE PCOS BIG PICTURE and MTHFR…

  1. A diagnosis of PCOS does not help understand where the problem is rooted. Many factors and pieces of the health puzzle are at play.
  2. In this case, PCOS may actually be one symptom of a larger issue, a genetic defect.  Getting tested for the MTFHR defect can be the KEY.
  3. Inflammation has many causes and identifying these causes is important to the proper management and treatment of hormone imbalances including PCOS- This is why looking at our health from all angles and understanding the PCOS BIG PICTURE is so critical.
  4. If you haven’t been tested for defects in the MTHFR gene or had your Homocysteine levels checked contact us. We have developed a panel of blood work specifically for woman who have PCOS.
  5. While we talked about MTHFR and methylation defects there are certain nutrients that can help you overcome these defective genes. While these genes cant be corrected, we can bypass them with the use of specific supplements.
  6. Here are some of the recommended supplements I use in practice when methylation defects are detected through testing. Sublingual B12, Methyl SP, SAMe

Stay tuned, Next, we reveal another piece of THE PCOS BIG PICTURE: PCOS and Why you many want to reconsider that Birth Control Pill.

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