MTHFR Mutations: Myths vs. Facts

With the rise in genetic testing, the MTHFR gene has become a hot topic of conversation. Many are eager to understand how these mutations might influence their health, leading to a surge in MTHFR testing. But along with this growing interest, there's a wave of misinformation that can easily lead to confusion and unnecessary worry. Are MTHFR mutations something to be concerned about? Does it have significant health implications, or is it just another health trend? This article will delve into myths vs facts, providing you with a clear and accurate understanding of MTHFR mutations and their true impact on your health. Let's dive in.

The MTHFR Gene

The MTHFR gene produces an enzyme with the same name - MTHFR.

Methylene-tetra-hydro-folate-reductase acts on an inactive form of vitamin B9 (folate), converting it to a useful form for the body.

Active folate helps reduce the levels of a harmful molecule called homocysteine in our body, producing a beneficial molecule named methionine instead.

Methionine helps our body synthesize proteins and other vital compounds.

Understanding MTHFR Gene Mutations

A mutation in the MTHFR gene means the MTHFR enzyme produced can’t do its job effectively.

There are two kinds of MTHFR variants: C677T and A1298C.

This means that the nucleotide C at position 677 on the gene was replaced by the nucleotide T.

Similarly, A at position 1298 may be replaced by C.

These mutations are fairly common among populations today.

Health Risks Due To MTHFR Mutations

An ineffective MTHFR enzyme cannot produce enough folate to regulate homocysteine levels in the body. This condition is known as homocystinuria.

Increased levels of homocysteine can lead to the following health conditions:

Cardiovascular diseases
Dementia
Mental health struggles
Nerve damage
Birth defects

Knowing whether you carry the MTHFR mutation can help you stay prepared for your later years and know if you’re passing your risk to future generations.

Inheriting MTHFR Mutations

The health risks associated with MTHFR mutations are present only if an individual has two copies of a mutated MTHFR gene.

This means that a child with an ineffective MTHFR enzyme will have inherited two copies of an MTHFR mutation, one from each parent.

The mutation will come into effect if the child carries:

Two copies of the same mutation
One copy of each mutation

Image showing a schematic hierarchy depicting how the MTHFR mutation is inherited

Debunking MTHFR Mutations: Myths Vs Facts

The Presence Of A MTHFR Variant Can Lead To Homocystinuria

MTHFR isn't the only gene associated with homocystinuria.

In fact, another gene called, CBS has a stronger association.

Fact

Only extreme situations lead to a full-blown mutation, and the detection of an MTHFR variant on a report isn’t necessarily a cause for concern.

It’s Not Safe To Consume Folates If You’re Diagnosed With An MTHFR Mutation.

While it’s true that a mutated MTHFR enzyme can’t act upon folates effectively, it’s also important to understand that your body has other ways of handling folates.

Fact

The folate level in your blood is more dependent on your folate intake than your MTHFR mutation.

Certain Birthmarks Are Signs Of The Presence Of An MTHFR Variant

Birthmarks like stork bites, sugar bugs, and sacral dimples could spook parents into worrying about the health of their infants.

However, they aren’t a cause for concern since they fade away as time passes.

Fact

Additionally, no studies have been published that show any correlation between these birthmarks and the adverse effects of the MTHFR mutation.

Folic Acid Supplements Are Needed For All People With MTHFR Variants

In most cases, no.

Even a double C677T mutation only lowers folic acid levels by 16%.

Fact

Folic acid levels also depend on various factors like diet and environmental exposure.

If the labs don’t indicate a severe deficiency, adding extra vitamin B9-rich foods to your diet should do the trick.

MTHFR Mutation Testing

An MTHFR gene mutation test helps identify the aforementioned two common variants in this gene.

It is done with a saliva or blood sample.

Some direct-to-consumer genetic testing companies also allow you to upload your existing raw DNA ancestry test file to provide the MTHFR report.

The results will flag the variants, if present, and may also include recommendations for maintaining healthy MTHFR and folate levels.

It is important to discuss the results with your healthcare provider for further course of action.

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Frequently Asked Questions: MTHFR Mutations: Myths vs Facts

What Medicines Can’t I Take With An MTHFR Mutation?

Acetaminophen has been shown to have some side effects like asthma or pregnancy complications. Since MTHFR is part of a pathway that helps combat these side effects, it’s recommended to avoid acetaminophen if you have an MTHFR deficiency.

What Autoimmune Diseases Are Associated With MTHFR Mutations?

The MTHFR mutation is one of two genes whose mutations stand to trigger autoimmune diseases. It’s rare, but MTHFR can interfere with the immune system’s ability to detoxify your body effectively.

What Cancers Are Associated With MTHFR?

The C677T variant that leads to the MTHFR mutation has been linked to an increased risk of breast cancer in specific populations.

Summary: Myths Vs Facts About MTHFR Mutations

MTHFR Gene Function: Converts inactive vitamin B9 (folate) into an active form, reducing homocysteine levels and producing methionine.
Common Mutations: C677T and A1298C variants can lead to an ineffective enzyme, affecting folate processing.
Health Risks: High homocysteine levels from MTHFR mutations can cause cardiovascular diseases, dementia, nerve damage, and birth defects.
Inheritance: Risks are present if both parents pass on the mutated gene, either as two copies of the same variant or one of each.
Debunking Myths:
1. Not all MTHFR variants cause severe issues.
2. You can continue consuming folates even with an MTHFR mutation.
3. No link between certain birthmarks and MTHFR variants.
4. Not everyone with MTHFR variants requires supplements.
Testing: MTHFR gene mutation tests identify C677T and A1298C variants through saliva or blood samples. Discuss results with a healthcare provider for proper guidance.