Understand Your Genetics

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Learning the Language of Your Genes

About six years ago, my mother handed me a lab report and said it was about a genetic issue she has that I should probably know about. I looked over the report and it was in another language. It described a gene called MTHFR and related it to my mother’s difficulty with high homocysteine levels and vascular issues. I said to myself that I didn’t have those symptoms and just filed away the report. Until, a couple years later, something compelled me to get that report out and delve deeper.

First, I did a simple Google search on “MTHFR.” That sent me down a rabbit hole that consumed my energy for the next several months, year, and ongoing until today. I share my story with MTHFR with the hope that it somehow serves you to short-circuit the learning process. But please know that every individual is different and what works for me and my son may not work for you.

Background on DNA, Genes, Methylation & SNPs

[This section is adapted from the Genetics Home Reference.]

DNA, or deoxyribonucleic acid, is the material that we inherit from our parents, grandparents, and all ancestors. A gene is the basic unit of heredity. Genes (made up of DNA) act as instructions to make molecules called proteins. Every person has two copies of each gene, one inherited from each parent.

Proteins are large, complex molecules that regulate the body’s tissues and organs. Proteins are made up smaller units called amino acids, which are attached to one another in long chains.

Each cell turns on only a fraction of its genes. The rest of the genes are turned off. The process of turning genes on and off is known as gene regulation. Epigenetics often refers to changes that affect gene activity and expression, determining whether genes are turned on or off .

A common type of epigenomic modification is called methylation. Methylation involves attaching small molecules called methyl groups, each consisting of one carbon atom and three hydrogen atoms, to segments of DNA. When methyl groups are added to a particular gene, that gene is turned off or silenced, and no protein is produced from that gene.

Single nucleotide polymorphisms, frequently called SNPs (pronounced “snips”), are the most common type of genetic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, a SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA.

Back to MTHFR

Understanding your genes involves much more than just looking at the MTHFR gene. But since how this journey started for me, that is where I will start. The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme helps process amino acids and is especially important in processing how the body uses folate (also called vitamin B9) and how it converts the amino acid homocysteine to another amino acid methionine, which is essential for the production of other proteins.

What I then learned was that this can play a role in many other body processes that can leave you feeling anxious and depressed, cause midline birth defects link tongue/lip tie and sacral dimple, and many other conditions as well. Lots of things I have been experiencing started to make more sense. My anxiety. My son’s tongue tie and later anger and anxiety. When I realized this, and knowing that my mom had one variant of the SNP, I knew I needed to test myself and my family.

Map Your DNA

If you have not already mapped your DNA, I highly recommend ordering a kit from 23andme. It’s cost effective at just $99. You can order the simple kit and it will ship within a week. Sample processing time is then approximately 6-8 weeks. Once received, you can then download the raw data for all of the additional analysis that you may want to do. If you find the ancestry portion interesting and fun, then the kit costs $199.

The most common MTHFR gene mutations are found at position 677 and/or position 1298 on the MTHFR gene. It turns out that I am homozygous for the MTHFR 1298CC mutation and my son is MTHFR 677CT + MTHFR 1298AC, also known as compound heterozygous, which is one mutation from two different parts of the gene.

Interpreting Your data

Once you have your raw data, you can run it through some simple and not-so-simple software programs for interpretation and analysis.

The first one I used was Genetic Genie. It will give you a methylation and detox profile, which are good places to start.

My integrative MD uses MTHFR Support’s Sterling’s App to interpret data, as that is the software she trained on, but I find it more complicated and difficult for a non-medically trained person.

My son’s naturopath used a program called Opus 23 PRO. I really liked the report that it provided. It was easier to understand and provided suggestions on supplements that might help support different SNPs. You’ll have to have your medical provider do this for you as the software is not available to the public.

Dr. Ben Lynch is one of the foremost authorities on MTHFR and epigenetics. His interpretation program is called StrateGene. I purchased it for my son and myself but it is far more complicated than I have had time to decipher so far. That said, I HIGHLY recommend Dr. Lynch’s new book called Dirty Genes, which explains not only MTHFR but also five other common SNPs that play a critical role in overall health.

Another app that I have heard good things about but have not personally used is Livewello.

Find an Integrative Doctor, Naturopath, or other Holistic Practitioner

This is easier said than done. Finding health professionals that I trusted to know more than me in my local area took some time. I am now very happy with them and feel they have given me sound advice on nutritional support, lifestyle adjustments, and supplements.

Start with a Google search and see what comes up when you search “integrative doctor” plus your town. You might also search “functional doctor,” “doctor + SNPs,” “naturopath,” “naturopath + SNPs.” Also, check with other like-minded holistic friends in your area, or perhaps you have a holistic healing center nearby that might give you leads. You might also search some of the databases of professionals that are involved in this work, such as this one. Many of these practitioners do consultations and 23andme report interpretation over the phone or by email, including both that I have worked with. You can reach out to me for their contact information.

“Clean Genes” and Not a Supplement for an SNP

Dr. Ben Lynch’s book Dirty Genes is a great starting point for anyone looking to improve their health and treat chronic issues. He prescribe an overall “clean living” approach that is sensible and doable. Much of the advice goes to the fundamentals of health. How clean is your water? How clean is your air? How much sleep are you getting? What are you eating? And something close to my heart, what are you putting on your body?

You can do a lot for your health before even going to see a practitioner. You may find that once your lifestyle is cleaned up, dirty genes or not, you are feeling a lot better. Then perhaps a tailored supplement can help you “spot clean” the symptoms you are having.