Breaking Down MTHFR

The mysterious MTHFR gene has taken social media by storm, but behind the TikTok trends lies a crucial piece of your health puzzle. We dive deep into what this gene actually does—functioning as the gatekeeper for how your body processes folate and breaks down homocysteine, an amino acid that can wreak havoc when levels climb too high.

Women with this gene mutation often face unique challenges, as the effects tend to manifest more strongly in female bodies. Those unexplained bouts of bloating after dairy or processed foods? That persistent brain fog? These seemingly disconnected symptoms might trace back to this single genetic variation. The conversation reveals how MTHFR mutations disrupt methylation—a critical process affecting everything from neurotransmitter production to detoxification pathways.

Most alarmingly, we uncover the long-term risks that rarely make headlines: increased vulnerability to cardiovascular disease, stroke, and dementia. With over twelve significant genetic variants that can affect methylation, understanding your specific MTHFR status might be more important than you realize. Whether you're struggling with unexplained symptoms or simply want to optimize your health, this discussion offers valuable insights into the genetic factors that might be silently influencing your wellbeing every day. Ready to decode what your genes are trying to tell you?

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Chapters

• 0:00 Introduction to MTHFR Gene
• 1:05 MTHFR Function Explained
• 2:31 Symptoms and Foods to Avoid
• 3:38 Health Risks of MTHFR Mutation
• 4:14 Genetic Variants and Polymorphisms

Transcript

Nicole: 0:02

Hey guys, welcome back to tattoos and telehealth, and today we wanted to talk to you about a gene called the MTHFR gene, and Kelli knows a lot about it. I do not know a lot about it and so I'm interested in picking her brain. There's been tons of um, tons of TikTok and YouTube and all of these things about if you have this gene, if you have this gene mutation, the symptoms that it can cause, how you know how frequent it is, and so really it's kind of come to light over the last six months to a year, and Kelli is knows all about it. So I have asked her to talk about it today. As usual, this is not to be considered medical advice. We're just two girls just chatting away and our lawyers make us say this also does not constitute a patient provider relationship., So,Kelli, take it off. What is the MTHFR gene? What is the mutation? What are the? Just give us, give us the details.

Kelli: 1:05

So MTHFR is a long word, that girl, I'm not even going to try to say it, I will butcher that name, I'm not even going to try to go there. But it is a rate limiting enzyme in the methyl cycle and basically its job is to convert several things. So let me break it down. So folate is required to break down homocysteine, which is an amino acid. So we tell people, I tell ladies especially and I'm going to kind of gear this more towards women it does affect men, in fact there's a small percentage of men that are, that are um, affected by MTHFRG mutation but it affects women a little bit more, um, and women seem to be a little bit more symptomatic because we have babies, we have reproductive systems and so, um, it can be a little bit more um relatable to us. But having said all of that, you know when we, as we age, we are working really hard on maintaining our skeletal muscles, to protect our bones, et cetera. So when you have something that you're trying to take in to better your body, like amino acids, and you have a gene mutation that can disrupt that, if you have that MTHFR gene mutation, your body may not be able to break down folate as well as it should. Okay, so folate is the problem. So MTHFR gene mutation disrupts your body's ability to break down homocysteine because it affects the way your body responds to folate. Okay, so you will often hear your provider say you need to have methylated versions of whatever. Okay, so this leads to increased levels of homocysteine in your body, which can potentially cause some health problems. So there's all kinds of foods that you should avoid um activities, things that you need to think about. But, real quick, I want you to think about if you are that person that you realize you get bloated, you get a stomach ache, you don't feel good after you consume dairy, processed foods, gluten, things that have food additives, you may have this gene mutation.

Kelli: 3:27

I'm not saying that you do Not, everybody does but that could be a sign that, potentially, you have that particular gene mutation. So there are a lot of risks that go along with this. Okay, one of the big things that I want to really hone in on today is not only do you need to worry about what this gene mutation can do for you on a cellular level, with breaking down amino acids and folate and things like that. It really means much, much more than that. Okay. Mthfr polymorphisms increase your risk of cardiovascular disease, cerebrovascular disease and dementia so big big deal. I really want to hit home with the fact that it can increase the risk for those things. So there are a few variants out there. They impair methylation, but there are over 12 clinically significant polymorphisms that we rarely consider when we're talking about MTHFRG mutations. No-transcript.