MTHFR testingThe topic of methylation has become more and more popular over the past few years. Methylation is a crucial biochemical process that is essential for the normal function of almost all of our body’s systems. It helps repair our DNA on a daily basis and regulates homocysteine metabolism. In addition, methylation is needed for detoxification and keep inflammation under control.

Methylation requires certain cofactors such as B vitamins. When we are deficient in certain B vitamins methylation breaks down, and the results can be catastrophic.

Reduced ability to methylate has been associated with:

  •  Elevated homocysteine
  • Increased risk for cardiovascular disease and stroke
  • Autism
  • Mental disorders
  • Osteoporosis
  • Cancer
  • Pregnancy-related disorders

Testing for Methylation

Complete blood count – Simply looking at the mean corpuscular volume (MCV) can reveal if someone has a methylation problem. This is one of the first thing I look at. Large red blood cells (Folate or vitamin B12 deficiency) or anemia can be a sign of impaired methylation.

Plasma Homocysteine – Homocysteine is an amino acid produced as part of the body’s methylation process. The metabolism of homocysteine is highly dependent on in vitamin B12, folate, and vitamin B6. Deficiencies in any of these may be associated with elevated homocysteine levels.

Organic acid testing – Organic acids are products of metabolism that can identify nutrient deficiencies that typically preced any abnormal findings on a CBC or a comprehensive metabolic panel. . Methylmalonate (MMA) is a more specific test for a vitamin B12 insufficiency. A person’s levels may be elevated even if you have a normal serum vitamin B12 or homocysteine level. In addition, formiminoglutamate (FIGLU) is a functional marker of folate insufficiency.

MTHFR SNP – There are many practitioners using genomic testing these days. MTHFR stands for methyltetrahydrofolate reductase, which is a key enzyme in the methylation pathway. One small change in that code is called a SNP, or single nucleotide polymorphism. A MTHFR SNP can decrease the function of this enzyme. The two main variants that are well understood and tested for are C677T and A1298C.

Supplements to consider:

It is important to note that there are many patients with MTHFR SNPs that do not have an elevated homocysteine level. Most people with MTHFR may need a separate folate (L-5-MTHF) if they require higher dosing. Most individuals will need 1 mg or 5 mg of L-5-MTHF. Patients with MTHFR have folate needs that vary quite of bit from patient to patient, so there will not be a one perfect product for them. How impaired the methylation is will be determined if the patient has a heterozygous, homozygous, or compound presentation. One patient may have a heterozygous SNP and only need 1mg of L-5-MTHF while another may have a homozygous C677T and need 5-10mg. Another patient may have one copy of A1298T and not need any more folate. Keep in mind some of these patients have developed compensatory ways to counter the SNP and may have sufficient folate.

When supporting methylation pathways, it is important consider synergistic nutrients in addition to folate and vitamin B12. Some of the toughest patients will not get effective lowering of homocysteine until choline is supplemented. Choline converts to betaine with the help of riboflavin and aids methylation in this step of the pathway. In addition, TMG (trimethylglycine) provides extra methyl groups. The most common block in the homocysteine pathway is the conversion of cystathionine to cysteine, which requires B6 to activate the cystathionine beta-synthase enzyme. Serine is also needed along with vitamin B6 to help convert homocysteine into cystathionine.

Any roadblock in this pathway can cause homocysteine to elevate. When we intricately study the biochemistry of the homocysteine pathway we can see that it involves a series of conversions that require enzymes. Several nutrients, especially B vitamins, are needed for these conversions to occur. In addition, stress can deplete B vitamins as well as many medications.

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