depression. Autism. Breast cancer. Alcoholism. Diabetes Type 1. Heart disease. What do they supposedly have in common? Many alternative health websites like to talk about an alleged relationship between these states and a gene called MTHFR – but there is no undeniable evidence that the link actually exists.
If you are unfamiliar with the MTHFR gene, the name stands for "methylene tetrahydrofolate reductase," an enzyme that the body needs to process certain substances in the body. And if it does not work right, many people believe it can cause all sorts of health issues, like the ones I've just mentioned ̵
As an epidemiologist, this topic is not new to me. But the issue of MTHFR gene variants and mutations seems to have a moment in the wellness field.
I'm a researcher, so I keep track of what is being talked about on the web, on social media and in places like mommy forums related to health and wellness. And I notice that the fear-inducing conversation about MTHFR gene variants reappears again and again on these platforms.
I see threads on MTHFR gene variants and the alleged health problems they cause daily Some of the forums I've been watching, as well as new blog posts on natural, holistic wellness sites (which I would define as websites who announce medical treatments that are not normally considered as part of general medicine) warn that this is strictly necessary for possible MTHFR abnormality. And it becomes a modern telephone game.
In addition, some alternative medicine sites even offer products such as vitamin specialties or health programs that are marketed to people with MTHFR variants. Some treatments cost thousands of dollars. Some outlets also suggest that an MTHFR gene variant is a contraindication to the vaccine – and this (unconfirmed) claim justifies avoiding vaccines.
The big problem? There is no convincing or conclusive scientific evidence that all MTHFR variations are related to health issues. Before you even think about whether an MTHFR gene variant could affect you, you need to know what you really should know about the gene and its role in your overall health.
What is the MTHFR gene and how does it work?
As I have already mentioned, its normal function is to produce an enzyme called methylenetetrahydrofolate reductase in the body. And there are some common variants, but they are not dangerous.
Methylenetetrahydrofolate reductase assists in the processing of amino acids, the building blocks of the protein. In particular, the methylenetetrahydrofolate reductase converts the amino acid homocysteine to another methionine. This is an important task because if the body is unable to process homocysteine properly, it can lead to an accumulation of homocysteine in the body, a condition known as homocystinuria, which can cause health problems. But we come to that.
Now, there are many people who have a variant of the MTHFR gene, which means that the DNA sequence that makes up this gene has some change. However, it is a common misconception that every amount of DNA changes automatically implies that this variant has health implications.
For example, many people have two common MTHFR variants: C677T and A1298C. While other variants exist, these two are the best studied changes in the MTHFR gene and "are very common in the Caucasian population." Charis Eng M. D., Ph.D., founding chairman of the Genomic Medicine Institute at the Cleveland Clinic, tells SELF. It adds that these variants are present in about 40 percent of people.
Dr. Eng also explicitly describes them as "variants" and not as "mutations" since the latter suggests damage that is very rare in individuals bearing one of these two common variants. (Many websites / forums use these terms interchangeably, which is part of the problem, or they do not indicate whether they mean a true mutation or speak of these common variants.) In fact, a single copy of these variants is not. t reduce the activity of the enzyme. "Homocysteine levels were measured in individuals with [one of these variants]and homocysteine levels are normal in [those] individuals," explains Dr. Closely.
This is the key to studying how common MTHFR variants affect a person's health: An individual can function properly even with a lower than normal level of the enzyme, as long as enough of it is present to complete the metabolic task homocysteine levels within a healthy range. So most people with these common variants would never know that they had one without genetic testing because there are no clear physical symptoms.
We have no definitive scientific research to suggest that these two MTHFR variants cause health effects.
There are no well-designed epidemiological studies to date that demonstrate that one of these variants causes the health effects that these health forums often associate with them.
Suppose that MTHFR increases a person's risk of developing heart disease, for example: Some older studies suggested that those with some degree of C677T variation could have higher risk – while it was much newer. larger and better structured researches actually found no evidence for increased risk.
And there are thousands of studies that go back and forth in terms of hundreds of patients h conditions. Media representatives and thus consumers can easily commit to negative outcomes, but this leads to concern and inaccurate health information when the ultimate science is not there.
There is one exception for which research is more consistent: Some individuals with two copies of C677T may have elevated homocysteine and research has revealed that is a baby could be prone to a neural tube defect . But even this combination is unusual. And for people with elevated homocysteine (who would be diagnosed by a blood test at the beginning of pregnancy) it is easy to treat with folic acid and / or B-vitamin supplementation, and a doctor would help guide the treatment.
MTHFR However, mutations can cause health problems – but this is very rare.
As for people who have a true MTHFR mutation, does this mean a gene defect that is big enough for clinical symptoms? "Very rare, unicorns," says Dr. Eng.
A serious MTHFR mutation implies that the mutation makes the enzyme completely inactive. There are 40 or so of these mutations that we know of. In individuals having one of these mutations, the enzyme deficiency leads to a potentially harmful accumulation of homocysteine in the body leading to a condition called homocystinuria but this is not true for all  MTHFR variants of the case but only in these serious mutations.An estimated 1 in 200,000 people worldwide suffer from homocystinuria, either due to MTHFR mutations or to another disease characterized as CBS deficiency Homocystinuria can lead to a number of health problems if left untreated, including developmental delays, Krampfan cases and difficulties in gaining weight or building muscle. As this may be serious problems, all states in the US screening of infants for homocystinuria allow for early diagnosis and intervention. Also, symptoms of homocystinuria are generally observable in association with an MTHFR mutation (eg, seizures, neurological problems). For these reasons, it is highly unlikely that someone with symptoms associated with these clinically significant MTHFR mutations will be overlooked or undiagnosed. Cases in which was diagnosed later than infancy are possible but they are unusual.
What should someone do if he is still worried about having an MTHFR variant? People with serious MTHFR mutations are few and far between – and because genetic testing for many people can cause unnecessary anxiety the current guidelines of many professional associations explicitly state that they do not support MTHFR testing for their patients. These include the American College of Medical Genetics and Genomics (ACMG), whose guidelines were adopted by the American Academy of Family Physicians ; the Maternal-Fetal Medicine Society ; and the American College of Obstetricians and Gynecologists .
Even the popular genetic testing company 23andMe does not recommend and does not offer tests for MTHFR variants. 23andMe notes that despite thousands of scientific papers investigating common MTHFR variants, "the evidence linking MTHFR to most of these health conditions is ambiguous or contradictory." The company states "that people should not interpret their genotypes in the usual MTHFR variants to affect their health."
For the majority of people with a common MTHFR variant, no symptoms occur Variant-related public health risks are so low (or non-existent for many) that they probably would not require special treatment. In short, an MTHFR variant does not mean you need to be treated for medical attention.
That is, if You are asymptomatic but still curious, instead of following the genetic tests (unless you really want to, and that is your choice.) Dr. Eng suggests to do a blood test to increase homocysteine levels check what the real indicator of potential health problems is, it's less expensive and can tell you if something clinically (Remember, clinically significant MTHFR gene mutations would be indicated by abnormally high homocysteine levels.)
If you find that your homocysteine levels are abnormally high, the treatment is also simple and straightforward: folate supplementation. Essentially, filling your folate with a dietary supplement will help your body bypass the need for the enzyme methylenetetrahydrofolate reductase produced by the MTHFR gene, and thus lower homocysteine levels. "Regular folate works; You do not need anything special. " Tight. B vitamins such as B6 and B12 may also be recommended for some individuals . Your doctor can help you to determine the best treatment and supplementation for you.