The Truth About MTHFR Gene Methylation Testing, Folic Acid and Disease

In this eye-opening episode, Dr. Michael Richman— double board-certified general and cardiothoracic surgeon — tackles the latest medical misinformation head-on. 

Responding to recent claims about genetic tests for the MTHFR gene, Dr. Richman dives deep into the science behind genetic polymorphisms, homocysteine levels, and cardiovascular risk. He breaks down major clinical studies, busts myths about methylated folic acid, and explains why you don't need expensive testing or supplements sold by non-doctors.

Learn the facts that insurance-covered tests already reveal, and why you should think twice before trusting social media health trends.

                 The truth matters when it comes to your health.
Tune in and empower yourself with real, evidence-based information.

Transcript

SPEAKER_00: 0:00

Morning, everybody. It's early here in Southern California. This is Dr. Michael Richman, double board certified general surgeon and cardiothoracic surgeon. One half of Two Doctors Tell the Truth podcast with my friend and colleague, Dr. Fiorillo. And I'm doing this short podcast this morning because, like I said in a prior podcast, I get texts very early in the morning from Dr. Fiorillo, who is on the East Coast. And it's usually something aggravating. So yes, he sent me something aggravating this morning. So I just wanted to get this out. Apparently, I haven't seen it, but Gary Brekka, one of the most infamous or famous, whatever you want to call them, medical influencers who's a biologist with his company 10X, was on Megyn Kelly or Joe Rogan this week or something and is encouraging everybody to get a genetic test from his company, 10X, which is$599, to have genes measured, and one of them is called the MTHFR, which stands for methylhydrotetrafolate reductase, because somehow it's going to make your body, if you have a gene, what's called polymorphism, an abnormality, it's going to make the gene... not be able to do its job properly and it's going to result in various issues with your body. So I think it's important, first of all, that I make a comment. If you look on the bottom of 10x website, it says everything on this website is for informational purposes and it doesn't constitute medical advice. So I submit to you, why would you be selling a genetic test? and telling people to do this if you're not giving medical advice, especially if it's false medical advice. So leave it at that. Next thing is, if you want testing of any sort and you go to a lab, a LabCorp, a Quest, your insurance covers it if it's for, or Medicare covers it if it's for real reasons, okay? So as Dr. Fiorello and I talk all the time about all we're selling is the truth, we're not selling any products, I'm like, these other people and we're not selling any books. I'm going to be a little technical in this, but I need everybody to understand the truth because if I don't tell you the information, if we don't tell you the information in the literature and the accurate information, how are you going to believe us? If I just said to you right now, like Gary Breck and other influencers are, that this is the fact and trust me, I know, what credibility do I have? Yes. Fine, I'm a cardiothoracic surgeon, certainly more than a biologist or a philosopher, but at the end of the day, you don't really know me, so I have to establish credibility. Okay, so I want to just quickly go through what the claims are. And so there's a gene, as I told you, it's called MTHFR. What MTHFR is, it's a gene that attaches what's called a methyl group to folic acid. And this is a new thing on the internet. Obviously, this gene has been around since the dawn of time because it's what does methylate folic acid in our body. And somehow, if the gene's not properly functioning, you'll have a folic acid deficiency. And if you have a folic acid deficiency, something in your body called homocysteine is elevated. And homocysteine does... a variety of things. And therefore, if you do this testing, then you should buy special folic acid from all these guys, which is already methylated folic acid, and yada, yada, yada. Okay, so none of that's true. So first of all, a little background. Dr. Fiorillo told me that he has various patients who come in all the time and say, hey, I was told I have an MTHFR. gene polymorphism? And am I susceptible when I'm having surgery to having blood clots? And the answer is no. Okay. So I did in 2011 and 2013, a two-year institutional review board, which is called the IRB study. And an institutional review board is a university-based, although the private ones that when you do a study. It has to be approved by them if it's legit that you're following ethics, you're following standards, they monitor you. So you know that this study is being done right and somebody is looking over your shoulder. And this study was looking at gene polymorphisms, this MTHFR gene polymorphisms, and seeing if because people were not able to methylate folic acid, Did they have a higher homocysteine level? Because homocysteine allegedly led to increased clotting in some papers. They were mostly in Europe. And it was a 200-person study. It took two years. And we didn't publish it because the data was... No. And I didn't think it was worth publishing. Let me tell you exactly what we found. We found, first of all, Very few people had MTHFR gene polymorphisms. Of those people who had gene polymorphisms, none of them, none had abnormal folic acid levels. This claim that there's three gene polymorphisms, that the TT version of the gene polymorphism doesn't allow you to methylate folic acid, So your homocysteine level rises and then your homocysteine level rises and somehow that's associated with deep venous thrombosis is false. And I will actually give you the literature right here because I think it's important that the truth, okay, basically the new studies say that while the methylation of folic acid is impaired in individuals with this TT polymorphism, It is not completely inhibited. And just increasing the folic acid supplementation will mitigate any effects of reduced enzyme activity. So therefore, you do not need to buy methylated folic acid. And that is from a recent article in the New England Journal of Medicine, okay? Furthermore, the American College of Medical Genetics and Genomics has noted that wild gene polymorphisms can lead to mild hypohomocystinemia, the clinical significance of this is uncertain and routine testing for the MTHFR polymorphism is not recommended due to inconsistent evidence linking these gene defects to any adverse medical events. Okay, and that's huge because these guys are out recommending it and scaring people that they're gonna have altered disease processes They could have clotting. Their body won't function properly. And, you know, that's basically bullshit. So the second thing is we used to think, and I wrote an article about this for WebMD, and then I rewrote it for my Substack page, is elevated homocysteine a cardiovascular risk factor? Because there was a lot of thought for a while that if you had this, again, if you had this MTHFR gene polymorphism, the TT version, You cannot put a methyl group on folic acid, and therefore you have a folic acid deficiency. And folic acid is necessary to reduce homocysteine levels. And high homocysteine levels are somehow associated with cardiovascular events. This has been blown out of the water, okay? First of all, homocysteine is an amino acid that cannot be made by the human body. It's synthesized from the amino acid called methionine in our body. And what an essential amino acid means is that it's indispensable. In other words, we can't make it ourselves. So methionine supplied by our diet from tuna, salmon, shrimp, beef, lamb, and plant-based from Brazil nuts, soybean, tofu, I think has it, wheat germ, and lentils. Okay. First trial, 2005, the HOPE trial, which was HOPE II. The Heart Outcome Prevention Evaluation Study was a large randomized placebo-controlled trial started in 1999, and it was designed whether to determine long-term supplementation with folic acid, vitamin B6, and vitamin B12. They're aimed at reducing homocysteine reduction, reduces the rates of fatal and non-fatal cardiovascular events in people who had diabetes or established cardiovascular disease. And the finding was that significant reductions of homocysteine was achieved. However, there was no benefit with folic acid. Okay, huge. Next was the NORVIT trial, N-O-R-V-I-T, which was published in the New England Journal of Medicine in 2006. And the aim of this study was to see if homocysteine lowering with B vitamins, again, folic acid for secondary prevention, in other words, you've already had your heart attack or stroke, in 3,749 men and women who had an acute heart attack within seven days before they were put in the study, seeing if you gave them all these vitamins, did they have a reduced incidence of heart attack or strokes? And the study found that although homocysteine level was lowered by 27% by people given folic acid plus B12, it did not lower the risk of recurrent heart attacks or strokes. Finally, a study called the Women's Antioxidant and Folic Acid Study. It was published in 2008. And the goal of the trial was to evaluate the effects of treatment with folic acid, regular folic acid, not methylated folic acid, okay? So you got to assume in that there were people who did have this MTHFR gene polymorphism. So it was done to evaluate the effect of folic acid and vitamin B compared with placebo among women with increased risk for cardiovascular disease. And it was a human double-blinded, in other words, nobody knew what they were getting, randomized trial of 53,788 patients. Ultimately, 5,442 patients were enrolled in the trial, okay? And these were women who were at increased risk of cardiovascular events. And half of them were given folic acid B12, the other half weren't. Despite reductions in homocysteine levels, there were no reductions in clinical events, in other words, heart attacks or strokes. So what does all this mean? Sorry that I gave you all the scientific information, but I need to establish the credibility. First of all, an elevated homocysteine may be a minor risk factor for cardiovascular disease. It's not a major risk factor for cardiovascular disease. There is no evidence. in huge trials, and there will never be another huge trial, it's settled, that lowering your homocysteine level with folic acid reduces your number of cardiovascular events or cardiovascular death, okay? So if somebody is suggesting to you or Gary Brecker or any of this that you need to have your MTHFR gene measured, bullshit, okay? Because lowering homocysteine is... not related to a reduction again in events. And we don't know, because homocysteine can be elevated in people with mild renal failure. We don't know what's going on, but it has no relation. Second thing, as I told you in the beginning, people who have an MTHFR gene polymorphism, the TT variant, which he's trying to tell you that you need to have measured, do not have any clinically significant adverse medical events because they're, quote, not methylating folic acid, because they all do methylate folic acid, even in that group, maybe to a lesser amount, and they just need higher levels of folic acid. So how do you determine that? Measure a folic acid level, okay? And if somebody's deficient in folic acid, really deficient in folic acid, you get a certain type of anemia called the macrocytic anemia, but your bodily functions are are normal, so you don't need it. And then the third thing is, as I also said, is an MTHFR gene polymorphism is not associated with deep venous thrombosis and blood clotting. O'Connor published an amazing study in the New England Journal of Medicine, I think it was 2017, 2018, and their conclusion in a large trial was it's not even worth measuring MTHFR because there is no real evidence to show that it's associated with clotting. So I know this is a complicated topic, but I'm trying to set the record straight, avoid you from wasting your money. If there was a need, you can go to LabCorp or Quest or any lab and have it measured and covered by insurance. And my challenge, have Dr. Fiorillo and me, we'd love to go on Megyn Kelly or Joe Rogan and any of these other people and debate Gary Brecker, any of these other influencers who are not doctors, and set the record straight. Because when it comes to your health, the truth matters. All right, I hope everybody has a good day. Thanks a lot.