Should You Get a MTHFR Gene Test?

Exploring the MTHFR Gene Mutation

DNA testing has revolutionised the field of personalised medicine, unlocking a treasure trove of information within our genetic code and our inherited symptoms that can profoundly impact our health and well-being.

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Among the many genes that play a pivotal role in our biological functioning, the MTHFR gene stands out for its critical involvement in the methylation process – a fundamental biochemical mechanism that influences a multitude of essential bodily functions. Changes in this gene, known as MTHFR mutation, can affect the body’s ability to process folate and lead to increased levels of homocysteine, which has been linked to potential health issues such as blood clotting, heart disease, stroke, and neural tube defects in babies. Read about the Genetic Methylation Test

What Is The MTHFR Gene?

The MTHFR gene, technically called Methylenetetrahydrofolate Reductase, is a key enzyme required to metabolise homocysteine. It is an enzyme that converts folate you eat into the active form (5-Methyltetrahydrofolate). As a gene, this is inherited by patients in their DNA. The MTHFR protein helps the body use certain medicines, process folate, and regulate homocysteine levels. Source At the heart of the MTHFR gene lies the production of the methylenetetrahydrofolate reductase enzyme, a key player in converting homocysteine into methionine. This conversion is vital for the synthesis of methyl groups, which are indispensable for DNA repair, detoxification pathways, neurotransmitter synthesis, and various other physiological processes. However, variations in the MTHFR gene, particularly the well-studied C677T and A1298C variants, can lead to diminished enzyme activity, resulting in impaired methylation capacity. These specific variants can cause significant health challenges for patients, both in mind and body.

What Does the MTHFR Gene Test Do?

The MTHFR gene test is used to detect two relatively common mutations in the MTHFR gene that are associated with reduced production of the methylenetetrahydrofolate reductase enzyme and therefore elevated levels of homocysteine in the blood. The turnaround time to see whether you have lower homocysteine levels or high blood levels from a mutation is likely to be 4 to 6 weeks, depending on our testing supplier.

What are the Consequences of Carrying MTHFR Gene Mutations and Folate Deficiency?

People carrying these MTHFR polymorphisms may experience challenges in effectively metabolising homocysteine, leading to elevated levels of this amino acid in their bloodstream. These polymorphisms are linked to various health conditions, including thrombophilia, cardiovascular disease, mental illness, fertility and poor pregnancy outcomes, as well as neural tube defects.

What Do High Homocysteine Levels Mean?

Elevated homocysteine levels have been linked to a heightened risk of several health conditions, including cardiovascular diseases, neural tube defects, and mental health disorders. Mutations in the MTHFR gene, such as C677T and A1298C, can lead to people developing high blood levels of homocysteine, especially when their diets are low in folate. High homocysteine levels in the blood are recognised as a risk factor for:

• Coronary artery disease
• Venous thrombosis and stroke
• Type 2 Diabetes
• Obesity

High homocysteine levels in the blood have also been associated with:

• Recurrent miscarriage
• Autism Spectrum Disorders
• Stillbirths
• Anxiety, Depression and other mood disorders

What Causes High Levels of Homocysteine?

The major cause of high homocysteine levels is folate deficiency. Other factors include insufficient vitamin B12 and genetic mutations in the MTHFR gene. Severe MTHFR deficiency, particularly due to polymorphisms, can lead to significantly elevated homocysteine levels and the clinical presentation of homocystinuria. Folate is Vitamin B9 and is not the same as folic acid. (Folic acid is synthetic and is not found in nature – Folic Acid must undergo various transformations to utilisation.)

The Importance of Understanding Your MTHFR Gene Status Through Genetic Testing

Understanding your MTHFR gene status through genetic testing is important to help you gain insights into your methylation capacity and enable informed healthcare decisions to be made. MTHFR gene variations play a significant role in regulating folate (remembering this is different from folic acid) and homocysteine levels in the body. Personalised treatment strategies, including dietary modifications, supplementation, and medication, can offer potential benefits for patients with these genetic variations. Book a Consultation with our Naturopaths to get your MTHFR Gene Testing

When Is The MTHFR Gene Test Used?

The MTHFR Gene Test may be ordered for the following reasons:

• If a person has a personal or family history of premature cardiovascular disease (CVD) or inappropriate blood clots (thrombosis)
• When a close relative has MTHFR gene mutations
• If a person has ongoing chronic health issues for which the reason is unclear.
• Due to the association between MTHFR polymorphisms and colorectal cancer, leading to increased referrals for testing and counseling.

In addition, recent studies have investigated the intriguing connection between MTHFR gene mutations and mental health disorders. Research suggests that individuals harboring MTHFR gene variants may be predisposed to conditions such as depression, anxiety, and schizophrenia. (Source) This connection highlights the intricate interplay between genetic factors and mental well-being, emphasising the importance of personalised interventions that address both genetic predispositions and mental health considerations. A defective (mutated) MTHFR gene can increase the risk of:

• Coronary heart disease
• Dementia
• Stress and toxin buildup
• Arteriosclerosis
• Fatty liver degenerative disease
• Depression
• IBS (irritable bowel syndrome)
• Miscarriages during pregnancy
• Migraines

How Does Having The MTHFR Gene Test Help You?

At its basic level, exploring the complexities of MTHFR mutations will help us understand more deeply our own biological intricacies and how genetic variations can influence our health outcomes. MTHFR mutations can impact homocysteine levels, potentially necessitating treatment through supplementation and lifestyle changes. You can’t change a defective gene. But you can help it do its job better and minimise problems, including those caused by the increased homocysteine levels. Within the context of personalised medicine, unraveling the mysteries of the MTHFR gene can open doors to tailored strategies that support optimal methylation function. By embracing this knowledge and incorporating targeted interventions that align with your own genetic blueprint, you can begin a more tailored journey towards your own optimal health and well-being, informed by your genetic heritage and supported by your referring Practitioner. With support from our Naturopaths, you can:

• carry out the recommended testing (by purchasing a test kit and giving a blood sample, with the pathology form our Naturopath will give you)
• understand if you have increased homocysteine levels
• carry out further testing if needed
• increase (and improve) nutritional intake
• commence supplementation, which plays an important role in supporting your body
• support your pregnancy and make sure your body has the foods and minerals it needs, which many foods unfortunately do not provide
• work to mitigate each risk factor you’re subject to
• minimise exposure to environmental toxins, and
• manage stress levels more effectively.

By doing so, people with a MTHFR gene variant can enhance their overall health and mitigate the risks associated with impaired methylation such as neural tube defect.

How to Get a MTHFR Gene Test

Book a Consultation with our Naturopaths to get your MTHFR Gene Testing

How to Get a MTHFR Gene Test

Our Naturopaths at Brisbane Livewell Clinic will help you purchase a simple test kit (we will arrange delivery of that to your home) and refer you to a pathology lab to receive a MTHFR gene blood test by giving a blood sample, otherwise called a “genetic test”. Once results have been received, you will then return to see your Naturopath, who will interpret your results for you and may recommend testing to follow up. If abnormalities such as a MTHFR variant are found in your blood through your test, your Naturopaths can then help with the following:

• Design a diet with foods to avoid, especially certain processed foods
• Provide information and supplements, such as Vitamin B, to counterbalance effects caused by the mutated gene
• Support you through the various health challenges that may be attributable to a MTHFR mutation, including anxiety, depression, detoxification, and many others.

The turnaround time for blood test, including to identify whether you have the common mutation of MTHFR, the second mutation, and specific variations, is usually between 4 to 6 weeks.