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MTHFR Mutation - Infertility and Recurrent Miscarriage


Many people who live with a wide variety of chronic illness may have underlying genetic factors that can contribute to their health challenges. They can be something directly inherited from a parent - a genetic mutation that makes it more difficult for the body to maintain health - or even genes that are turned on by environmental factors or stress.


MTHFR - [a muted gene that can affect pregnancy and the body's ability to detoxify] - is a slight change in an important sequence of DNA - which tells the body how to make an enzyme that helps create "Methyl-folate" from foods that contain folate.


MTHFR - Methylene-Tetra-Hydro-Folate-Reductase - is an enzyme in the cells that metabolize and eliminates "Homocysteine" - which is a amino acid toxin, that damages the "Endothelial" cell wall that lines the:

  • Heart

  • Blood Vessels

  • Lymphatic Vessels

It is responsible for transforming folic acid [folate] to its active form "Methyl-folate" [a nutrient that the body uses to metabolize other nutrients, and aid in detoxification - so that the body can continue to produce new healthy cells]

One in three people have a variant of the gene that makes MTHFR - which can be assessed with a simple blood test - if its positive you may need a higher dose off B vitamins.


If there is a deficiency of 'Folate' - B6 and/or B12 in the body levels of 'Homocysteine' can increase.

Those with a defective MTHFR gene mutation are unable to process 'Folate' properly.


Low levels of folic acid and vitamin B12 are also associated with this genetic mutation, which increases:

  • The risk of neural tube defect [spina bifida]

  • Miscarriage rates

  • Cardiovascular disease

Elevated levels of 'Homocysteine' in the blood are a risk factor for vascular disease independent of:

  • Diabetes

  • Hypertension

  • Elevated levels of cholesterol in the blood

The gene MTHFR - encodes the MTHFR enzyme which is in charge of a multi-step process converting 'Homocysteine' into the healthy amino acid 'Methionine' - an important antioxidant in the body for the production of healthy eggs and sperm - responsible for:

  • Processing fats

  • Maintaining liver health by helping to remove heavy metals and toxins from the body

  • Producing proteins

An irregular change in gene structure [a mutation] of the MTHFR gene can cause:

  • An interruption of the MTHFR enzymes regular function of breaking down 'Homocysteine' [a bad amino acid]

  • An inability to appropriately process B vitamin [folate]

Anyone with MTHFR gene mutation can have high levels of 'Homocysteine' - but not everyone with the gene mutation has a 'Homocysteine' issue.


Poor levels of 'Methionine' - can lead to heavy metal and toxin build up in the body, which can raise the risk of:

  • Arteriosclerosis - a condition affecting the arteries

  • Fatty liver degenerative disease

  • Anemia

  • Increased inflammation

  • Chemical sensitivities

  • increased free radical damage


MTHFR Gene Mutation - depending on what mutation of MTHFR you have - the body cannot 'Methylate' - 'Methylation' affects the body's:

  • Natural detoxification process

  • Controlling oxidation

  • immune function - including autoimmunity

  • Formation of neurotransmitters

  • Energy production

The MTHFR gene is made up of 2 common mutations:

  • C677T MTHFR mutation [the serious one] - is found in over 5-10% of the population

  • A1298C MTHFR mutation affects some 20 to 30% of the general public


Some people may have a genetic mutation in one or both of their MTHFR genes, which are known as:

  • Heterozygous - for those with mutations found in one MTHFR gene [defective gene has been inherited from one parent - and will be found in just one strand of DNA]

  • Homozygous - for those with mutations found in both MTHFR genes -[defective gene has been inherited from both parents - and will be found on both DNA strands]

Genetic variation in this gene influences peoples susceptibility to:

  • Methylenetetrahydrofolate reductase deficiency

  • Cardiovascular disease

  • Recurrent unexplained miscarriages/pregnancies with neural tube defects

  • Colon cancer and acute leukemia

  • Migraines

  • chronic pain/fatigue/nerve pain

  • inappropriate blood clotting and the problems caused by clots [embolism/stroke/heart attack]

Most people with the MTHFR mutation will not experience such serious conditions - but rather trouble healing from:

  • Inflammatory conditions

  • Hormonal imbalances

  • Fatigue

  • Digestive issues

  • Autoimmune disease



MTHFR Pregnancies and Miscarriage


One of the main issues with the prevalence of the MTHFR gene is the build up of 'Homocysteine' [in which the body cannot convert it to 'Methionine'] in the blood stream decreasing production of 'Methionine' - which can cause problems with blood clots and has been widely linked to recurrent miscarriages.


While some MTHFR mutations are not a cause for concern there is one - if the gene is found to be 'Homozygous' - a mutated gene which has been inherited from both parents, it can lead to:

  • Recurrent miscarriages

  • Long standing infertility


According to MTHFR expert Dr John Lynch, www.mthfr.net - MTHFR miscarriages and recurrent pregnancy loss are linked particularly if either the male or female have:

  • 1 or more copies of the C677T MTHFR mutation

  • 1 copy each of A1298C and C677T or

  • 2 copies of A1298C or

  • A single copy of A1289C MTHFR mutation may not be related - however, he is still on the fence about this for various reasons.

Many people who live with a wide variety of chronic illness have underlying genetic

factors that can contribute to their health challenges. They can be something directly inherited from a parent - a genetic mutation.


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