MTHFR Mutation – MTHFR Genetic Mutation

MTHFR Mutation

The MTHFR Mutation – Methylenetetrahydrofolate Reductase (MTHFR) is critical in the function of DNA methylation, a complex biochemical process that regulates gene expression (i.e., turning genes on and off). It also governs intracellular detoxification, regulates protein function and RNA production, and supports the immune system. The MTHFR gene metabolizes folate, which is a key nutrient for methylation, specifically the conversion of homocysteine (a potentially toxic amino acid) to methionine.
MTHFR provides methylation with its main fuel: folate (5-MethylTetraHydroFolate). Without adequate amounts of folate, methylation function is reduced. Methylation is required for virtually every process in our body, therefore affecting numerous health conditions. In fact, in many studies, researchers have found that the MTHFR mutation is linked to a variety of conditions. Below is a partial list of MTHFR symptoms and conditions in alphabetical order:

  • Addictions
  • Alzheimer’s
  • Anxiety
  • Asthma
  • Autism
  • Atherosclerosis
  • Bladder Cancer
  • Bipolar
  • Blood Clots
  • Breast Cancer
  • Chronic Fatigue
  • Chemical Sensitivity
  • Depression
  • Diabetes
  • Down syndrome
  • Fibromyalgia
  • Glaucoma
  • Gastric Cancer
  • Heart Disease
  • Heart Murmurs
  • Heart Attack
  • Hypertension
  • IBS
  • Infertility
  • Mental Illness
  • Migraines
  • Miscarriages
  • Multiple Sclerosis
  • Neurologic Diseases
  • Parkinson’s
  • Pre-eclampsia
  • Prostate Cancer
  • Pulmonary Embolism
  • Rectal Cancer
  • Schizophrenia
  • Spina Bifida
  • Stroke
  • Vascular Dementia
  • and more…
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Why do we need this test?

Over 80% of the population has an MTHFR mutation in at least one of the two most important alleles (C677T and A1298C) of the MTHFR gene. *1

MTHFR C677T can also lead to high homocysteine, although this can be difficult to clinically identify because other factors can also influence homocysteine levels. Research has shown that an MTHFR mutation of this allele has a greater impact on health compared to other alleles.

MTHFR A1298C has not been found clinically to have an effect on homocysteine levels. This allele has a greater effect in the production of BH4 (tetrahydrobiopterin). BH4 is a cofactor in the production of neurotransmitters such as epinephrine, norepinephrine, serotonin, dopamine and melatonin. A deficiency of BH4 may affect the cardiovascular and neurological systems as well as emotional wellbeing.

Compound heterozygous and homozygous C677T are considered severe or “at risk” of reduced methylation. High homocysteine has a high risk factor for numerous diseases. Homozygous C677T and compound heterozygous MTHFR mutations are more likely to correlate with elevated homocysteine levels and a greater risk of heart disease.

Those with a heterozygous MTHFR mutation (C677T) may lose roughly 40% of their enzyme activity, and those with a homozygous MTHFR mutation may lose up to 70%.

Today, science has proven that our body has a mechanism capable of silencing “bad genes” or regulating gene expression. This process is called methylation.

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MTHFR and Detoxification

Our bodies are constantly detoxifying from pollution and toxicity in our food, water and medications. A complete detox program must include proper methylation. Without knowing whether you have a mutation or which mutation you have, it is very hard to estimate your needs for proper DNA methylation.

MTHFR and Weight Loss

The body engulfs toxins in fat cells to protect us. As long as there are toxins in the body there will be a higher need to produce fat cells. Every weight loss program should include a detoxification phase that ensures the recipient has adequate levels of folate by testing for an MTHFR mutation and serum folate levels according to the recipient’s genetic code, and supplement with the appropriate amounts of methylfolate if needed.

MTHFR and Thyroid

Thyroid hormones are activated in the nucleus of the cells. Methylation is one of the necessary components of thyroid hormone activation. Even if all of the thyroid markers are within range, methylation is needed to activate the hormones.  If all the markers are normal but you still have symptoms, it is very possible you have a methylation problem.

MTHFR and Gene Expression

With the exception of a few diseases like sickle-cell anemia and cystic fibrosis, most diseases are controlled by a set of genes, including chronic diseases like most cancers, cardiovascular disease, mental illness and diabetes. The more mutations you have pertaining to a particular disease, the greater your chances are of developing that particular disease. Methylation is the process that can silence those genes.

We have learned through epigenetics that your DNA is not your destiny. The body uses the process of methylation to silence bad genes. If you are perfectly healthy but has a poor methylation, your body may not be able to silence the diseased genes you inherited from your parents. We all have heard of cases in which seemly healthy people developed a disease out of nowhere. Making sure your methylation is working well may decrease the chance of those diseases being expressed. When it comes to wellness and disease prevention, in addition to standard medical care and proper diet and lifestyle, you must also include proper methylation.

*1. http://www.cdc.gov/genomics/population/genvar/frequencies/MTHFR.htm