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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 enzyme. There may also be problems with Methionine, Glutathione, Glycine, B12, B6 and/or zinc and copper balance. interestingly enough, both Zinc and Copper are important cofactors for the conversion and regeneration of homocysteine back to methionine.

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 (MTHFR) enzyme 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.


Connection: MTHFR and PCOS

A healthy MTHFR enzyme is crucial for our health and well-being. As more and more people request testing for the MTHFR SNP, we are seeing more and more people affected by this gene mutation.

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.”

Having one or more copies of this gene reducing the activity of the enzyme and this can have disastrous effects on your hormones.

Properly functioning ovaries require an efficient folate pathway.

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.

Common PCOS symptoms include:

  • Irregular menstruation
  • Very light periods or amenorrhea
  • Enlarged ovaries due to eggs that do not ovulate
  • Multiple cysts on the ovaries
  • Difficulty becoming pregnant
  • Excess hair on the face and body (hirsutism)
  • Thinning hair or hair loss on the scalp (alopecia)
  • Acne on the face and/or body that can be severe
  • Oily skin
  • Darkened or thickened patches of skin (acanthosis nigricans) in the armpits, back of the neck, under the breasts
  • Weight gain, usually around the abdomen
  • Skin tags on the neck or armpits
  • Mood changes: depression, anxiety, low self-esteem

How Does MTHFR And It’s Function 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.

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).

Living with both Hashimotos Disease, High Homocystein and MTHFR variants- What you need to know 2

We have Many Concerns When We MTHFR SNPS

1) Your body cannot breakdown homocysteine.  The result is increasing levels of homocysteine in your blood vessels that are now linked to heart attacks, strokes, pulmonary embolism and more recent research Cancer.

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).

3) Problems with Methionine. 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.

4) Impacts neurotransmitters. 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.

5) No matter how much synthetic folate you take- lacking the proper enzyme function prevents your body from properly using it.

(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.

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.

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. Properly functioning ovaries require an efficient folate pathway.
  3. 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.
  4. 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.
  5. 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.
  6. Women who have been diagnosed with PCOS or have had miscarriages, should check to see if they have the MTHFR gene.
  7. 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.
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