Are You a MTHFR?

WHAT IS MTHFR?

MTHFR is a gene, and like every gene in your body, it has a job.¹ It accomplishes its job by working with enzymes. Enzymes are carriers for a gene’s code.² They do the heavy lifting to get a job done.

[Genes, enzymes, code…no shame in admitting you’re not sure what they are. Check out this quick and simple recap: MTHFR Explained For Dummies.]

In the case of MTHFR, its enzymes help in a cycle that turns folate, or vitamin B9, into a version called methylfolate, a form that’s a better fit to be used by your body.³ That’s it. That’s all it does. 

Big whoop, right?

It is at least a little whoop, though. Here’s why: methylfolate is one of a few instrumental components that begin a process called methylation.^{4 5} And methylation is the BIG whoop.

METHYLATION

Efforts to fully understand methylation are still underway, driven to some extent by the information found in the Human Genome Project,⁶ a decade-long research project dedicated to mapping out every gene in the human body. It came to a close in 2003, but with the discovery of tens of thousands of genes—all with their own functions—you can’t blame the experts for taking their time parsing through results.

Essentially, what they’ve discovered about methylation is that it’s wildly common, literally happening in every single gene, enzyme, and even cell of our bodies at all times—billions of times every second! Most research agrees that it has a lot to do with your DNA, like which of your genes become expressed, a fancy term that means it starts doing whatever job it was coded to do. Sometimes this means it helps keep certain genes at bay, like ones that might make you prone to developing cancers; other times methylation is responsible for kicking on genes that are necessary for your daily functions.^{7 8}

Research also suggests that our lifestyle decisions have an impact on methylation.^{9 10} Choices like diet, exercise, and stress may influence the efficiency and outcome of methylation.

MTHFR, METHYLFOLATE, & METHYLCOBALAMIN

So what does MTHFR have to do with it? As we discussed before, methylfolate is thought to be one of the keys to initiating methylation, alongside methylcobalamin (you may know this one by its more common name, B12), and vitamin B2 (riboflavin.)^{11 12}

Because the MTHFR gene helps produce methylfolate, it would stand to reason that it’s pretty important to be up and running to ensure methylation can do its thing. Some experts believe that if the activity of the MTHFR gene is decreased or inhibited, global methylation (all methylation in the body) can also be affected, and over time, this can cause a whole host of issues.^{13 14}

MTHFR SNPs

Did you know that not everybody’s genes are the same?

Duh, Emma, you’re a 5’4” brown-eyed girl and I’m an ocean-eyed, leggy giraffe. Basic example. (This is you speaking.)

Yes, Clarice, but I’m talking about SNPs. Single-nucleotide polymorphisms. These are small structural differences in a gene’s code that can cause variations in its enzymes’ function.¹⁵ Basically, if the gene is written slightly differently than the norm, every enzyme it programs has the same ‘flaw’. Sometimes, those variations can affect job performance.

I have a MTHFR SNP. Thus, I like to refer to myself as a MTHFR. (You probably do too after that giraffe comment, huh?)

SNPs are actually pretty common. According to current research’s best guess, some 40% of the global population has one or more. ¹⁶ Some ethnic populations are less susceptible, like people of African descent, and others are more prone, like European and Hispanic people. In Asia, alleles are more common in eastern countries, and less common in southern.^{17 18 19}

[The More You Know…

In reference to the U.S. population of MTHFRs, I say ‘research’s best guess’ because genetic testing is not common enough to confirm these numbers. Estimations are scaled based on populations in case studies as well as verified numbers.]

Many of these variants are heterozygous, meaning you only have one copy of a variant from either your mom or your dad. In these cases, when expressed, these gene variants might reduce your MTHFR enzyme’s efficacy by around 17 to 33%. Other variants, like a homozygous SNP, could have more drastic effects, lowering activity by 39 or even 75%. ²⁰

I have one of those homozygous SNPs. My MTHFR enzymes, under poor conditions, can be limited to just 25% activity.

ASSOCIATED DISEASES

Again, the research surrounding MTHFR and methylation is still evolving, and some experts believe that very few side effects can come from even a greatly reduced ability to metabolize folate. Others have linked MTHFR variants to certain health risks, including: High homocysteine or hyperhomocysteinemia;^{21 22} folate deficiency;^{23 24 25} vitamin B12 deficiency;^{26 27} risk for cardiovascular events or disease;^{28 29 30 31} elevated risk for bipolar disorder, ADHD, schizophrenia, major depression, anxiety, and autism;^{32 33 34} infertility or multiple miscarriages;³⁵ and some cancers.^{36 37}

MY STORY

I was tested for a MTHFR gene variant by accident. Or maybe more accurately, discovering it wasn’t the goal of the genetic testing but a fortunate byproduct. 

I’ve struggled with depression my entire life. I was 16 when I was first diagnosed, 17 when I began antidepressants. Before the doctors prescribed them to me, they performed a genetic test to determine which drug was best suited to my brain chemistry. 

I’m grateful to those doctors for taking care before prescribing a 17-year-old a powerful, mind-altering drug. I’m even more grateful for that test. It wouldn’t come into play for another five years but when it did, it completely altered the course of my life.

Learning about my MTHFR gene variant came at a time when I wasn’t getting support from any other source and didn’t have the funds to ping-pong between specialists hunting for answers. I was extremely sick, taking life day-by-day but not really living a single second of it. My depression especially took an extreme turn for the worse and every moment became a struggle to choose to continue.

Choosing instead to nurture my MTHFR gene variant introduced me to an entirely new way of living. It taught me to consider every food I put in my mouth, the quality of the environment I surround myself with, the mindset I embrace and the support I give it, the ways I move my body, and the relationships I feed.

In short, it taught me what is now My MTHFR Lifestyle. Through living it, I’ve nursed myself not just back to health but to wholeness. Depression no longer rules my life, and joy is a choice I feel empowered to make.

THE BOTTOM LINE

You MTHFRs deserve health and happiness, too.

DISCLAIMER

I am not a healthcare professional. None of the content on this blog is meant to replace or substitute the advice of your doctor, nor should it be seen as health advice. Use your own good judgement and research to take what you will.

SOURCES

• https://medlineplus.gov/genetics/understanding/basics/gene/
• https://www.medicalnewstoday.com/articles/319704#examples
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703276/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471069/
• https://www.genome.gov/human-genome-project
• https://www.nature.com/articles/npp2012112
• https://pubmed.ncbi.nlm.nih.gov/11420478/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710387/
• https://www.cdc.gov/genomics-and-health/about/epigenetic-impacts-on-health.html?CDC_AAref_Val=https://www.cdc.gov/genomics/disease/epigenetics.htm
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860483/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6630484/
• https://www.ncbi.nlm.nih.gov/books/NBK66131/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10779094/
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218441/
• https://pubmed.ncbi.nlm.nih.gov/29532755/
• https://www.ahajournals.org/doi/10.1161/circulationaha.114.013311#d1e408
• https://pubmed.ncbi.nlm.nih.gov/26266420/
• https://campuspress.yale.edu/ledger/mthfr-mutations-all-you-need-to-know/
• https://ods.od.nih.gov/pdf/factsheets/folate-consumer.pdf
• https://pubmed.ncbi.nlm.nih.gov/26137654/
• https://pubmed.ncbi.nlm.nih.gov/30581350/
• https://www.nature.com/articles/ng0595-111
• https://www.mdpi.com/2073-4425/15/7/872
• https://medlineplus.gov/genetics/gene/mthfr/#conditions
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9282595/
• https://pubmed.ncbi.nlm.nih.gov/17344026/
• https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9405832/
• https://pubmed.ncbi.nlm.nih.gov/34505017/

YOUR TURN

Are you a MTHFR? Say it loud and proud in the comments below! How did your journey lead you to find out about your MTHFR gene variant?