Exploring MTHFR Gene Mutation
DNA testing has revolutionised the field of personalised medicine, unlocking a treasure trove of information within our genetic code that can profoundly impact our health and well-being.
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.
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).
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.
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 elevated levels of homocysteine in the blood.
What are the Consequences of Carrying MTHFR Gene Mutations?
People carrying these MTHFR gene mutations may experience challenges in effectively metabolising homocysteine, leading to elevated levels of this amino acid in their bloodstream.
What Do High Levels of Homocysteine 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.
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. Folate is Vitamin B9 and is not the same as folic acid. (Folic acid is synthetic and is not found in nature. It 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.
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.
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
- Migraines
Read all about Seeing a Naturopath: Everything You Need to Know
How Does Having The MTHFR Gene Test Help You?
At its basic level, exploring the complexities of the MTHFR gene will help us understand more deeply our own biological intricacies and how genetic variations can influence our health outcomes.
You can’t change a defective gene. But you can help it do its job better and minimise problems.
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.
With support from our Naturopaths, you can:
- increase (and improve) nutritional intake
- minimise exposure to environmental toxins, and
- manage stress levels more effectively.
By doing so, people with MTHFR gene variants can enhance their overall health and mitigate the risks associated with impaired methylation.
How to Get a MTHFR Gene Test
Our Naturopaths at Brisbane Livewell Clinic will refer you to a pathology lab to receive a MTHFR gene blood test.
Once results have been received, you will then return to see your Naturopath, who will interpret your results for you.
If abnormalities are found, 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 defective MTHFR Gene, including anxiety, depression, detoxification, and many others.
Last Updated on 25 April 2024 by Brisbane Livewell Clinic
