The MTHFR gene has been in the news a lot recently. It’s been theorized to cause everything from ADHD to schizophrenia, although much of that is unproven hype. What actually is this gene? What does it do? How do you know if you have the mutation? Here’s your guide to everything you need to know about the MTHFR gene.
What A MTHFR Mutation Does
A mutation to the MTHFR gene means that your body will no longer process the amino acid homocysteine or the nutrient folic acid. Homocysteine isn’t a necessary nutrient, so the biggest problem it poses is that it will build up, unprocessed, in the body. It can damage the lining of veins and arteries, leading to heart conditions. It can also cause weakness, fatigue, and several other problems, some more serious than others.
Folic acid, on the other hand, helps to regulate mental health. Put as simply as it can be, it works like this: the MTHFR gene is responsible for creating an enzyme that helps the body digest folic acid into its usable form, L-methylfolate. The mutation prevents this process, meaning that people who are eating foods rich in folic acid, or even taking a folic acid supplement, will still not see any of the benefits from their folic acid intake.
People with the mutation can try taking supplements to improve their mental health. Two options are folic acid supplements and L-methylfolate supplements. L-methylfolate is the compound that the MTHFR enzyme turns folic acid into, which means it’s the compound that is actually used in someone’s body. Many doctors doubt the effectiveness of taking folic acid as a supplement, since people with a mutation of their MTHFR gene may not be able to digest and use the supplement.
This journal states that Vitamin B12 may also be helpful to mitigate the problems associated with homocysteine. However, the MTHFR mutation is not well studied yet, so this may or may not be extremely reliable information.
Before taking either of these supplements, or any other treatment, people should talk to their doctors. They might also decide to take a test for the MTHFR mutation, so they know whether that’s actually the cause of their problem, or whether it may have a different cause.
If, like most people, you slept through your high school biology class, you might be confused about genes, enzymes, and amino acids. Here’s a quick refresher on genetics.
Everyone has two copies of their DNA—one that they inherited from their mother, one from their father. Each copy has the MTHFR gene, along with hundreds of thousands of other genes. There are two mutations that can happen to the MTHFR gene: C677T and A1298C. Either or both of a person’s parents could have had either or both of these mutations.
If someone’s father has one copy of a mutation, and their mother has one copy, they would have a chance to inherit both. That means they won’t have any normal, non-mutated genes, so they won’t be able to make the enzyme that digests folic acid and homocysteine. It’s also possible to have one of each mutation, which still damages the body’s ability to process homocysteine and folic acid.
The two different mutations arise in different populations. About twenty-five percent of Hispanic people and ten percent of Caucasian people in America have two copies of the C677T mutation. Seven to fourteen percent of Caucasian people have two copies of the less common A1298C mutation, which is rarely found in any minorities and has been studied significantly less.
Enzymes and You
So what are enzymes anyway? They’re the reason why cows can eat grass and humans can’t. They’re behind lactose intolerance. Simply, enzymes are machines the body uses to digest nutrients. For more information, check out https://my.clevelandclinic.org/health/articles/21532-enzymes
People eat a lot of different food, but most of it is not in the forms our body uses. Look at sugars, for example. There are dozens of types of sugars, from glucose, fructose, and sucrose to larger complex carbohydrates, but the human body can only process the simplest, glucose. Every more complex sugar is composed of glucose linked together, like a daisy chain. Enzymes unlink the chain, so people’s bodies can use the glucose to create energy.
The MTHFR enzyme is similar. It refines folic acid into L-methylfolate, a smaller molecule that human bodies can actually use. That’s why it’s so important: without it, folic acid is useless to the body.
So, what’s the name of this crucial enzyme, and the gene named for producing it? What would require such an awkward acronym? What name would be so long and unpronounceable that every person who ever talks about the gene would use the abbreviation? It’s this: methylenetetrahydrofolate reductase. Now aren’t you glad you learned that?