What Are MTHFR Mutation Symptoms and Signs?

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Hey, how are you?

The subject I want to discuss today is…

MTHFR Mutation Symptoms and Signs

The idea of MTHFR mutation seems abstract.

It’s not something you can feel like it’s some common health condition.

It’s perfectly normal to wonder whether you carry the MTHFR variant.

But the only way to know for sure is through a laboratory test…

But signs and symptoms may point to the existence of MTHFR mutation.

You’ll learn more about them throughout this post.

MTHFR Mutation Symptoms and Signs

MTHFR Gene Mutation Signs

Many health conditions have a specific set of symptoms that define them.

But MTHFR mutation is not a health condition per se; it can just increase the risk of certain health problems.

As I’ve already mentioned, the only way to confirm whether you have MTHFR mutation is to do a genetic blood test.

Keep in mind that many insurance plans don’t cover genetic testing.

Various health organizations say that testing for MTHFR mutation isn’t necessary, but of course, you’re curious and wonder if you carry a variant (or two) of this gene.

Some signs and symptoms may indicate the presence of MTHFR mutation.

They vary from one person to another, but it’s useful to know them.

When you know how to recognize symptoms of the MTHFR variant, you’ll be more focused on your health and wellbeing.

You may also feel encouraged or motivated to get tested.

Most people aren’t even aware of MTHFR mutation until they start experiencing severe symptoms, which is why you have to know them, or if they do genetic testing.

Having one or two MTHFR variants can increase homocysteine levels.

Homocysteine is an amino acid the body produces by breaking down proteins.

Elevated homocysteine may damage blood cells and cause blood clots.

Men and women with high homocysteine levels tend to have low levels of vitamin B12.

Symptoms of homocysteinemia or high homocysteine levels due to MTHFR mutations include:

  • Abnormal blood clotting
  • Developmental delays
  • Impaired coordination
  • Microcephaly
  • Numbness or tingling in hands and feet
  • Seizures

Other MTHFR Characteristics

Every person is different, so we may experience MTHFR mutation differently.

I always say it’s important to listen to your body…

Whenever something’s wrong, our body tries to warn us.

Sometimes we pick up on those signals, and sometimes we do not.

The MTHFR mutations can present themselves through a number of problems affecting our physical and mental health.

Physical conditions that may occur in people with one or two MTHFR variants are:

  • Acute leukemia
  • Cardiovascular and thromboembolic diseases (high blood pressure, blood clots, heart attack, stroke)
  • Chronic fatigue and pain
  • Colon cancer
  • Estrogen dominance (indicated by tender and swollen breasts, mood swings, irregular menstrual cycle, thyroid dysfunction, heavy and painful periods)
  • Migraine
  • Nerve pain
  • Pregnancy with neural tube defects, but also other pregnancy-related problems such as Down syndrome, anencephaly (baby born without parts of the brain and skull), encephalocele (sac-like protrusion of the brain and the membranes through an opening of the skull)
  • Recurrent miscarriages

Mental health problems that may indicate the presence of MTHFR mutation include:

  • Anxiety
  • Bipolar disorder
  • Depression
  • Schizophrenia

Besides the above-mentioned problems, methylenetetrahydrofolate reductase (MTHFR full form) is associated with the following:

  • Allergies
  • Asthma
  • Chronic inflammation
  • Dizziness
  • Eczema
  • Hives
  • Impaired immune system
  • Increased liver enzymes

MTHFR Gene Markers

Everyone has MTHFR genes, but some people inherit one or two variants i.e., mutations.

You can inherit MTHFR mutation from one parent or two variants (one from each parent).

The most common MTHFR gene markers are:

C677T – the most common MTHFR variant, about 25% of people of Hispanic descent and 10-15% Caucasian people have this gene mutation. Health problems are more common in people who carry this gene variant. But it could also be down to the fact this gene variant is more explored than the other.

A1298C – also a common gene variant, but deserves further research as most studies focus on C677T

In most cases, people have either C677T or A1298C variant.

But it’s also entirely possible to have both, to inherit each from one parent.

What are MTHFR Mutation Symptoms and Signs

Does A Single MTHFR Gene Mutation Increase The Risk Of Health Problems?

Let’s say you have one MTHFR gene variant, and someone else has two.

Does that mean you won’t have any health problem, and the other person will?

Generally speaking, having one copy of C677T or A1298C is not associated with significant health risks.

Also, two copies of A1298C may also not induce health problems.

On the flip side, people with two C677T variants have increased health risks.

Men and women who carry one copy of each (both C677T and A1298C) are also more likely to develop health problems.

These problems happen for a relatively simple reason.

When genetically mutated, MTHFR doesn’t function properly.

As a result, homocysteine and folate levels fall out of balance.

The lack of balance disturbs many body functions, and the consequences mentioned throughout this post are bound to happen.

After all, the proper functioning of the body depends on the balance of nutrients, hormones, and everything else for that matter.

When amino acids or nutrients, like in this case, aren’t in equilibrium, the body notices that immediately because it can’t use them to support its mechanisms.

MTHFR Mutation Symptoms and Signs Aren’t Specific, With Variations From Person To Person

The MTHFR mutations are common, although C677T is more prevalent.

Like other gene mutations, MTHFR variants don’t have specific signs and symptoms.

They may vary from one person to another.

However, they still exist.

In this post, I decided to shed more light on MTHFR mutation signs and symptoms that you should know, especially if you suspect that you have one or two variants.