MTHFR Testing

First, what’s the MTHFR gene?

MTHFR is a lot easier to remember (and say) than Methylene Tetrahydrofolate Reductase!

MTHFR codes for the enzyme which converts folic acid to the form of folate a form that our bodies can actually use!

A person with MTHFR SNPs (genetic variations) is likely to have significantly reduced ability to convert inactive forms of folic acid to the active form of folate.

Adequate folate is central to good health.  Imagine…every cell needs folate when it is created (DNA synthesis)!

Folate is also needed for cardiovascular and neural health, as well as neurotransmitter synthesis.

At the molecular level, the main function of folate is to donate methyl groups in many key biochemical reactions. More info about folate.

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Why Are More People Requesting MTHFR Testing?

Some people ask their doctor for the MTHFR genetic test because they’ve been hearing so much about it and it can provide new insights into achieving optimal health.

Other times, people are looking for an underlying (or functional) reason for not feeling well.

Perhaps they may be having digestive issues, constipation or diarrhea, IBS, or food intolerances.

Or, they may be experiencing symptoms like an excessive histamine response, brain fog, sleep difficulties, anxiety, getting sick often (lowered immunity), fatigue, joint pain, or neuropathy.

Knowing whether or not they have SNPs in the MTHFR gene provides a valuable new clue that a healthcare provider like myself can use to personalize a nutrition plan for improved health.

(In my practice I also use other clues of inadequate folate status such as elevated homocysteine, low red blood cell folate, high urine FIGLU (Formiminoglutamate), signs and symptoms, family history, medications and diet.)

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Most Researched MTHFR SNPs

Generally MTHFR testing is done on the best researched (and common) MTHFR genetic mutations: C677T and A1298C.

Here’s why each is important and unique:

• MTHFR C677T – may be associated with cardiovascular problems
  If you have one or two of these SNPs, there is a potential for reduced conversion of homocysteine to methionine. Homocysteine levels may be elevated and there is an increased potential for blood clot formation. It is also associated with increased male infertility and sperm DNA alteration.

• MTHFR A1298C – may be  associated with neurological/cognitive problems
  If you have one or two of these SNPs, there is a potential for reduced production of tetrahydrobiopterin (BH4). BH4 is an integral cofactor in nitric oxide and neurotransmitter synthesis.  This SNP does not affect homocysteine levels.

If you suspect you have MTHFR, talk with your doctor and he/she will order you a MTHFR test. Some insurance companies cover it, but you’ll have to find out if your specific insurance plan does.

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Consumer Direct Genetic Testing Options

The 23andme and ancestry.com at home genetic testing can be ordered directly from their websites. It includes raw data for these common MTHFR SNPs as well as thousands of other genes.

In my practice I regularly use both 23andme and ancestry.com data to determine if you have common SNPs in the MTHFR  gene. I also look at other nutrition related genes and create a PureGenomics report for my patients.

My nutrigenomic counseling session includes nutrition strategies for MTHFR and other SNPs with suggested follow-up monitoring of nutritional status.

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IMPORTANT NOTE: When you supplement with folate, it’s important for your doctor to assess if your Vitamin B12 status is adequate. If you have a Vitamin B12 deficiency, folate can mask it and there can be serious neurological implications.

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Epigenetics and Nutrigenomics are gaining traction within the professional nutrition community. NYCNEN, a professional group of nutrition educators in NYC, asked me to present at their half day conference, “Not Your Mom’s Genes,” at Teachers College Columbia University held in January.

It was an honor to be in the company of the other speakers. Dr. Fabien Delahaye, PhD, Assistant Professor at Albert Einstein College of Medicine, began the meeting by sharing his research in his talk, “Epigenetics 101: What research has taught us about environment and gene expression.”

Also on the program was Malki Miller, MS, RD, CNSC, neonatal/pediatric dietitian at Maimonides Infants’ and Children’s Hospital where she is involved in nutrition support for preterm infants in the neonatal intensive care unit (NICU). Her work involves nutrition strategies for better outcomes during childhood and later in life, as it relates to epigenetics (gene expression).

My presentation focused on Nutrigenomics in the patient care process. Using genes involved with methylation (MTHFR and COMT) as examples, I discussed how to integrate genetic clues in a nutrition assessment and mapped out a variety of nutrition strategies.

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“One MyPlate Does Not Fit All – Novel Dietary Approaches”*

I was honored to be asked to present at this clinical update for fellow RDs in the Westchester and Rockland counties, about Nutrigenomics and the powerful influence of food/nutrition on genes and their expression.

It was very exciting to illustrate how to use the genetic profile to provide clues for potential disease,  and to help understand root causes of a patient’s disease and symptoms.

We discussed that while genetics provides valuable information, your genes are not your destiny.

It’s all about how genes are expressed by your environment, or epigenetics, that is important!

And since nutrition —  the foods you eat and the supplements your take — is a constant environmental factor, it plays a key role in gene expression (epigenetics).

Nutrigenomics provides an exciting new tool for RDs to personalize nutrition care by matching diet and lifestyle with a client’s genotype and biochemical individuality to optimize health.

Check out my Nutrigenomics nutrition counseling offering.

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*“One MyPlate Does Not Fit All – Novel Dietary Approaches,” presented by Janet Zarowitz, MS, RD, CDN at Westchester/Rockland Dietetic Association Clinical Update, December 3, 2015