(Pt 2) Methylation and MTHFR Mutation

MTHFR GENE

MTHFR ENZYME=methylenetetrahydrofolate

The other day we discussed what Methylation is, the importance of it and the various symptoms and conditions it causes. We also discussed the difference between Over-Methylating and Under-Methylating.

Today we’re going to be discussing more about Methylation and the gene mutations that accompany it.

The process of Methylation turns on and off genes and affects your DNA (genes).

Let me start off by painting you a picture. Picture a shoe lace with the plastic tip on it. Now over time that little plastic cap on the end of the shoe lace starts to crack, then breaks slowly…after awhile the protected end of the shoe lace starts to loosen and fray outward.

Now – imagine that same shoe lace as a strand of DNA, the plastic cap on that shoe lace is called a telomere. It protects the end of the DNA strands. When telomeres become damaged by improper methylation, it opens the door to disease, cancer, and affects the aging process.

Most commonly known mutation in the Methylation cycle is the MTHFR (Methylenetetrahydrofolate Reductase Mutation) It’s a mouth full to pronounce so we’ll stick with MTHFR.

Now, its important to understand there’s a MTHFR GENE and a MTHFR enzyme it puts out.

The key to understand is that MTHFR is involved in methylation. If your methylation process has problems, in the case of those with MTHFR gene mutation, then your risks of health problems and serious disease is much higher.

MTHFR limits the rate of the methylation cycle; it is responsible for the activation of folate for the production of homocysteine to methionine. Certain variants in this gene can result in the reduced capacity of the MTHFR enzyme. It can lead to High levels of homocysteine in the blood and low levels of folate and other vitamins. This particular gene mutation affects every person differently – either with many symptoms that cause serious long-term health issues; or hardly none at all.

Although not proven, it been estimated 30-50% of all people may carry a MTHFR gene and can be inherited and passed down.

The Methylation cycle is like a factory that produces methyl groups. This cycle is a metabolic process that involves nutrients like vitamin B12, folate, and vitamin B6 and riboflavin (B2) to help metabolize homocysteine, methionine, and S-adenosylmethionine (SAMe). Folate and B12 are key factors in the methylation cycle and necessary for the production of methyl groups, while other B vitamins are needed for enzyme activity in the cycle.

MTHFR is a gene that provides the body with instructions to make an enzyme called methylenetetrahydrofolate reductase. It’s a process of all the actions and reactions like: The ability to a make and use active folate, to use other vitamins, minerals, essential fatty acids, and amino acids that work with folate, recycle homocysteine to maintain proper methylation vital to good health, produce essential neurotransmitters vital for good mental health, make proper DNA, RNA, and SAM-e, to form red blood cells and white blood cells, and many others. Its about having and using methylenetetrahydrofolate properly, and it helps your body communicate and tell your body what to do and when to do it.

**Photo by MTHFRgenehealth.com**

The mutation simply refers to the genetic mutation or change in the gene that is responsible for the MTHFR enzyme. People who have MTHFR gene mutations simply have a reduction in the ability to produce this vital enzyme. MTHFR gene mutations are measured by gene type, the type can tell you what percentage of reduction in the methylenetetrahydrofolate reductase enzyme you may have which can help greatly in terms of seeking the right treatment for the condition.

These mutations are often called polymorphisms and can affect the genes called MTHFR C677T and MTHFR A1298C. It can occur in different locations on the gene and inheritable.

GENE TYPES:

Heterozygous – 1 copy of the gene from EITHER parent

Homozygous – 1 Copy of the gene from EACH parent

Approximate percentages of reduced ability to produce MTHFR Enzyme:

MTHFR C677T Heterozygous = 40% loss of function

MTHFR C677T Homozygous = 70% loss function

MTHFR A1298C Heterozygous = 20% loss of function

MTHFR A1298C Homozygous = 40% los function

MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function.

(meaning the presence of 2 different mutations at a particular gene)

The MTHFR gene mutation can change the way you metabolize food and convert the food into important vitamins and minerals, alter neurotransmitter and hormone levels, cholesterol levels, brain function, digestion, endocrine functions and more.

The MTHFR enzyme converts folate from your diet into an activated form of folate called 5- Methyltetrahydrofolate, when this happens your body is able to use this form of folate to produce hundreds of chemical reactions that are important to having good health.

Homocysteine is another outcome of the methylation cycle and is the metabolism of homocysteine into methionine, cysteine or glutathione. Homocysteine is a major PRO-inflammatory amino acid that has important functions within the body. High levels have been linked to Heart disease, stroke, frequent miscarriages, infertility, psychiatric conditions, dementia, Alzheimer’s, anaemia, and renal dysfunction.

Major causes of homocysteine are animal protein rich diets, and sluggish methylation cycles. A high homocysteine reading on a blood test can indicate that the methylination cycle is struggling to keep up with demand for its metabolism.

Functional Methylation Testing Beyond MTHFR:

Identification of MTHFR is what originally put Methylation on the map. Because of this, its lead to many doctors or practitioners to do genetic testing for the MTHFR and other genes related to methylation. They’ve begun supplements to correct the methylation deficiency solely based on the genetic results. However, this is a very flawed approach seeing that genes don’t tell you the “FUNCTIONAL” methylation capacity. (ie how its actually working versus just having it present or not). So just because you have a mutation doesn’t mean you’ll actually have impaired methylation.

However- its also possible to not have the mutation and have severe methylation imbalance and require treatment.

TESTING:

Its important to look at genetics along side functional methylation markers. Markers of impaired methylation on a typical blood chemistry panel include low serum folate, low serum B12, high serum MMA, and high serum homocysteine. Additional indicative markers include low RBC folate, high urine MMA, and high urine FIGLU.

Health Diagnostics and Research Institute (HDRI) has a comprehensive test called the Methylation Pathways Panel that measures the many distinct folate derivatives in the methylination cycle, oxidized and reduced glutathione, and levels of the methyl donor SAM-e and methylation inhibitor SAH (S-adenosyl-homocysteine).

The Mensah Medical Biomedical Outpatient Clinic in Illinois is another that specializes in the treatment of biochemical imbalances like Methylation Imbalance. Its pretty much all they do.

Today we talked about Methylation and MTHFR gene mutations and the enzymes that are used to help regulate methylation. In the next article on Methylation we’ll be discussing what you can do about it and how to balance it through proper nutrition, vitamins, minerals, and lifestyle.

**Note: At the end of the day, methylation has gotten a lot of attention and the more they seem to find out about it – the less they seem to know. Meaning, the medical researchers have learned they know even less about it than they thought, because there’s far more to it than they realized. Until then we do the best we can with what we got.

Love and Light,

Happy healing

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