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The MTHFR Mutation: Summary, Symptoms, and Treatments

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While it’s true that every single one of us contain genes with genetic mutations, often times these differences are harmless. Every now and then, however, they can wreak havoc on our body. One harmful change includes a relatively common mutation referred to as the MTHFR mutation.

No, it’s not some form of internet slang. MTHFR stands for methylenetetrahydrofolate reductase, and it’s gaining attention as a genetic mutation that may lead to elevated levels of homocysteine and lower levels of folate.

Homocysteine is an amino acid that works to maintain the body’s cells while folate is, “one of the B-vitamins needed to make red and white blood cells in the bone marrow, convert carbohydrates into energy, and produce DNA and RNA.” Each plays an important role in the body’s daily functions, and both are important.

But if this all sounds like a lot of dense and confusing scientific jargon, have no fear. While genetic mutations and the MTHFR mutation may seem complex, they become simple once broken down. Let’s dissect this common mutation to understand why it is relevant today and why genetic mutations are so important to fully comprehend.

What Is MTHFR and Where Does It Come From?

To understand the MTHFR mutation, it pays to understand what MTHFR is at its core. So what is it exactly?

Again, MTHFR is an enzyme that breaks down the amino acids homocysteine and folate. When genetically mutated, MTHFR may not be able to function normally or at all. In turn, homocysteine levels and folate levels may be elevated or unbalanced. We’ll discuss the importance of this in detail later. But where does MTHFR come from?

The methylenetetrahydrofolate reductase gene comes in a singular pair — you inherit one gene from each parent as you develop in the womb. Because MTHFR comes in a pair, it can mutate in one of two ways: Mutations can affect one gene (a heterozygous mutation) or both genes (a homozygous mutation). Two MTHFR gene variant mutations are possible: C677T mutations and A1298C mutations. A variant is part of a gene’s DNA that’s commonly different, or varies, from person to person.

Who Has the MTHFR Mutation, and How Is It Diagnosed?

The MTHFR mutation variants are not uncommon. As for the MTHFR C677T mutation, approximately 30%-40% of the American population may have it. Roughly 25% of people of Hispanic descent and 10%-15% of Caucasian descent are homozygous for this variant.

As for the A1298C mutation, limited research is available. For instance, a 2004 study that focused on blood donors of Irish heritage found that 46.7% were heterozygous for the A1298C variant, and 14.2% were homozygous. And though it is rather rare, it remains possible to have both MTHFR variants.

You can determine whether or not you have the MTHFR gene mutation in multiple ways. A doctor may review your medical genetics and history of health issues while performing a physical exam. From there, your doctor may order a blood test to check your homocysteine levels.

Genetic testing, on the other hand, is often discouraged by medical professionals unless high homocysteine levels or other vitamin deficiencies associated with the MTHFR mutation are detected. This is because a blood test is a far easier means of checking homocysteine levels in the blood, making the genetic testing process unnecessary.

While the testing process may be expensive if it’s not covered by insurance, specific genetic testing kits offer screening options for MTHFR if need be. 23andme, for instance, is a popular genetic testing kit that provides genetic ancestry and health information at $200, a relatively inexpensive option considering the information you receive. To determine your genetic testing options, consider contacting your local healthcare provider for medical advice.

Risk Factors

You inherit one copy of the MTHFR gene from each of your parents, which means that you possess two MTHFR genes in which mutations can occur. Having a parent or close relative with an MTHFR gene mutation can increase your risk of inheriting the same variant. And if you have two parents with mutations, there’s an increased risk of having a homozygous MTHFR mutation.

Possible Symptoms of the MTHFR Mutation

As with many genetic mutations that alter the body’s ability to perform basic functions, symptoms that may indicate a MTHFR mutation are plentiful. That being said, research surrounding the linkage between MTHFR and any number of the symptoms listed below is insufficient in itself, thus bolstering the need for genetic testing or further medical examination via blood sample, which is what doctors recommend.

The mutation may be diagnosed based on a combination of symptoms and conditions, but professional medical testing is the easiest way to reach such a definitive answer. Symptoms of the MTHFR mutation may include:

  • Digestive Issues
  • Migraines
  • Nerve Pain
  • Depression
  • Anxiety
  • Schizophrenia
  • Bipolar Disorder
  • Chronic Fatigue and Pain

Yet because the MTHFR mutation has no clear symptoms in itself, medical professionals look elsewhere for answers. For instance, having one or two MTHFR mutations can slightly increase the levels of homocysteine present in your blood or urine. This condition is referred to as homocystinuria. As a result of homocystinuria, blood clots may form more easily while vitamin b12 levels may decline. Therefore, symptoms associated with homocystinuria include:

  • Blood Clotting
  • Developmental Delays
  • Increased Risk of Seizures
  • Microcephaly
  • Blood Clots
  • Reduced Coordination
  • Numbness or tingling of the hands and feet

Conditions Linked to the MTHFR Mutation

The MTHFR mutation alters the body’s ability to process specific amino acids and B-vitamins, namely homocysteine and folate, respectively. As a result of this mutation, a number of conditions associated with the MTHFR mutation may arise over time. Additionally, studies suggest that women with two C677T gene variants are twice as likely to have a child with a neural tube defect, though the risk still remains low. Other conditions may include:

  • Cardiovascular diseases such as blood clots, coronary artery disease, and heart disease due to reduced folate levels
  • Thrombophilia, an abnormality of blood coagulation that increases the risk of thrombosis (blood clots in blood vessels)

Risks for complications in pregnancy can include:

  • Anencephaly, a condition in which a baby is born with an underdeveloped brain and an incomplete skull
  • Neural tube defects, such as spina bifida
  • Birth defects or other birthing complications in pregnant women
  • Recurrent unexplained miscarriages

Treatment for an MTHFR Mutation

Having the MTHFR mutation doesn’t mean you need to receive treatment. Often times a few dietary and lifestyle changes are enough to offset any nutritional deficiencies as a result of this mutation, such as consuming more B-vitamins in your regular diet or getting more exercise. Taking simple steps to improve your everyday health are some of the most straightforward yet effective means of ensuring the MTHFR mutation doesn’t lower your quality of life.

For instance, you can make dietary considerations that include folate-rich foods, such as animal and plant protein, spinach, asparagus, banana, avocado, and enriched grains. Physical activity guidelines based on your age. Adults should seek to perform at least 150 to 300 minutes (5 hours) a week of moderate-intensity, or 75 minutes to 150 minutes (2 hours and 30 minutes) a week of vigorous-intensity aerobic physical activity. Determining exactly which dietary and lifestyle changes to make should come from a discussion with your healthcare provider.

However, individuals suffering from elevated homocysteine levels may require more serious interventions. Regularly consuming dietary supplements that include folic acid containing methylfolate, methionine, and other amino acids may be necessary. Even more benefit may come from taking 5,10-methylenetetrahydrofolate reductase, or 5-MTHF, which is the reduced form of folate.

Living With an MTHFR Mutation

Understanding both the MTHFR mutation and genetic conditions at large is a rather complicated task. Referring to professional medical resources such as the Genetics Home Reference and, The National Center for Biotechnology Information, can make the process far easier.

The MTHFR mutation doesn’t affect everyone in the same way. Yet those with the mutation may have higher-than-normal levels of homocysteine in their blood or urine, and symptoms due to such issues may arise. Unless these symptoms are present, genetic testing is often discouraged. And if they are, healthcare professionals often recommend monitoring enzyme activity alongside other preventative measures.

In summation, continue to eat well and lead a healthy lifestyle filled with exercise, proper sleep, and other lifestyle habits that support your well-being. If you suspect you have the MTHFR mutation, refer to professional medical resources and speak with your healthcare provider to determine your next course of action. You can continue to live your best life, regardless of this condition.

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