Identifying a potential gene mutation can be intimidating at the best of times. The presence of numerous genes within our body coding for different functions means a mutation in one can affect us in many ways.

MTHFR gene mutations, like many other gene mutations, can lead to many symptoms throughout our body. It can be tricky to make sense of different mutations and what they mean, so read on to find out more about MTHFR gene mutations, what your lab results mean, and how this mutation can be addressed.

What is a Gene Mutation?

A gene mutation is an alteration in the DNA sequence that makes up a gene in an organism. These mutations can either be hereditary or acquired. Hereditary (germline) mutations are inherited from the parent's egg or sperm cells and present throughout the individual's life. On the other hand, acquired (somatic) mutations occur during the individual's life due to environmental factors. Unlike hereditary mutations, acquired mutations cannot be passed down through generations (1).

Gene mutations can affect both the health and development of an individual. Because each cell within the body relies on specific proteins to properly carry out their jobs, a mutation in one of the genes coded for the protein can lead to detrimental effects. When a mutation occurs in a protein that plays a critical role in how the body functions, it can cause many medical conditions and even lead to genetic disorders. An example of this is the MTHFR gene mutation.

How The MTHFR Gene Mutation Arises

The MTHFR gene codes for Methylenetetrahydrofolate reductase (MTHFR), an important enzyme that breaks down the amino acid homocysteine. When the MTHFR gene is mutated, this can interfere with the enzyme's natural ability to function normally, resulting in high levels of homocysteine and low levels of essential vitamins in the blood (2). When this occurs, this can contribute to many adverse health outcomes, including:

• Anemia
• Cardiovascular diseases, including blood clots and heart attacks
• Depression and Anxiety
• Recurrent miscarriages
• Scoliosis
• Chronic nerve pain
• Developmental anomalies during pregnancy

So how does this MTHFR gene mutation arise? These mutations are hereditary, meaning you inherit the two MTHFR genes from your parents. Mutations can either affect one gene (heterozygous) or two (homozygous), with differing effects. While having a heterozygous mutation means this is less likely to contribute to health conditions, a homozygous mutation can be detrimental. So, if both parents have MTHFR gene mutations, the chances of the child having a homozygous mutation are much higher (3).

Testing For MTHFR Gene Mutations

Because symptoms of this gene mutation vary between individuals, it can be hard to determine whether you have this mutation or not. People usually undergo genetic testing after they have experienced severe symptoms, some of which are detailed below (4):

• Nerve pain
• Schizophrenia
• Developmental delays
• Depression and Anxiety
• Abnormal blood clotting

While most health organizations don't recommend genetic testing for this mutation unless there are incredibly high homocysteine levels or many adverse health indications, you may still be curious about your MTHFR gene status. A professional may refer you to get tested if needed; otherwise, some at-home gene testing kits may be an adequate option to use.

What Do My Labs Mean?

Firstly, individuals usually get tested for blood homocysteine levels. High levels indicate that the MTHFR gene is not doing a good job of breaking down this amino acid correctly, suggesting a probable mutation on the gene. Suppose levels are elevated, and there is also a family history of MTHFR gene mutations or heart conditions. In that case, a blood sample will be taken with results showing whether you are positive or negative for this gene mutation.

If the results shown are positive, it will indicate which one out of the two mutations you have (C677T or A1298C) and whether you have one or two copies of the mutated gene (5). If results were negative, but your homocysteine levels remain elevated, you may be asked to take further tests clarifying the cause.

How Do I Address This Mutation?

While gene mutations are irreversible, there are several ways you can incorporate the treatment to improve quality of life. Because folic acid and other B vitamins break down homocysteine into other substances used by the body, your healthcare provider may recommend introducing folic acid or other B vitamin supplements into your diet. From this, homocysteine levels will hopefully be brought back to normal. Other lifestyle factors that can be adjusted to improve homocysteine levels include incorporating more exercise, eating a healthy diet, and stopping smoking (6).

Many people also have this mutation for most of their adult life without noticing any symptoms. If this is the case, medical treatment is likely unnecessary, and this mutation can be managed with simple dietary and lifestyle changes.

If you test positive for the MTHFR gene mutation while currently pregnant or trying to conceive, it is highly recommended to talk to a professional. While many studies have remained inconclusive, others have suggested that women with MTHFR mutations have a higher risk of recurrent miscarriages and giving birth to babies with congenital disabilities (7).

The Bottom Line

MTHFR gene mutations are a commonly expressed hereditary mutation that affects the levels of homocysteine in our blood. Because of this, many symptoms can arise, including mood disorders, anemia, and cardiovascular diseases. If symptoms are severe, genetic testing can be undergone to identify the mutation in individuals.

While some forms of this mutation do not cause any noticeable adverse effects, other forms can be treated after talking with a professional. Supplements such as folic acid and B vitamins are often taken alongside other lifestyle changes to improve the individual's quality of life.