MTHFR might be a new approach with your local health care provider, giving a deeper look into a client's genetic function or dysfunction, yet the MTHFR enzyme was fist found in 1960's, and the MTHFR genetic testing became available in 1990's. There are currently over 20'000 scientific papers published on MTHFR mutations and health complications associated with it.
So what is the big deal with MTHFR Gene?
Have you wondered why you have gut ache after eating bread and dairy? Maybe you felt that certain multivitamins make you anxious, or not work on you at all? Have you faced fertility issues and miscarriages? Or perhaps you are developing a number of chronic health conditions since a young age?
Although there may be a lot of variables that have lead to the above health complications, at the base of it may be your genetic expression, and MTHFR gene expression in particular.
The MTHFR (methylenetetrahydrofolate reductase) gene plays a crucial role in the body's methylation process, which is essential for various biochemical reactions, including DNA synthesis, repair, and detoxification. Mutations in the MTHFR gene can lead to a range of health complications, affecting digestion, fertility, energy levels, mental health, and detoxification processes.
What is MTHFR Gene?
The MTHFR gene encodes an enzyme that converts homocysteine, an amino acid, into methionine, a building block for proteins. This conversion requires the active form of folate, known as L-methylfolate. Methylation, facilitated by this enzyme, is vital for numerous bodily functions, including neurotransmitter production and detoxification​.
Genetic Mutations
Mutations in the MTHFR gene can result in reduced enzyme activity. The two most common variants are C677T and A1298C:
C677T: This mutation can reduce MTHFR enzyme activity by up to 90% in individuals with two copies (homozygous). It is associated with higher homocysteine levels, which can lead to cardiovascular issues.
A1298C: This variant can also reduce enzyme activity but generally has a milder effect compared to C677T. However, it can still contribute to various health issues when combined with the C677T mutation.
These mutations can lead to a decreased ability to convert folate into its active form, L-methylfolate, which is crucial for methylation​.
Not sure where to get tested? You can purchase this convenient do-it-at-home test kit and a report HERE
Complications
1. Digestion
MTHFR mutations can impair the body's ability to convert dietary folate into L-methylfolate. This disruption can lead to gastrointestinal issues such as irritable bowel syndrome (IBS) and food intolerances.
Proper methylation supports the production of stomach acid and digestive enzymes, crucial for nutrient absorption and gut health​.
Gluten and diary occupy folate receptors in the body, making folate less usable by the cells. This is why in some instances you can have abdominal pain when consuming these foods, or consuming products fortified with folic acid - a synthetic form of folate.
2. Fertility
Women with MTHFR mutations may experience difficulties in maintaining adequate folate levels, increasing the risk of miscarriages and neural tube defects in their babies. For men, these mutations can affect sperm quality and function.
Supplementing with L-methylfolate can help improve fertility outcomes by ensuring sufficient folate levels necessary for fetal development and reproductive health​​.
3. Energy Levels
Methylation is essential for the production of ATP, the energy currency of cells. MTHFR mutations can lead to decreased ATP production, resulting in chronic fatigue and low energy levels.
Ensuring adequate intake of L-methylfolate and other B vitamins can support energy metabolism and enhance overall vitality​​.
4. Mental Health Conditions
Mental health is closely linked to methylation, which influences the production of neurotransmitters like serotonin, dopamine, and norepinephrine. MTHFR mutations can disrupt these processes, contributing to conditions such as depression, anxiety, and mood disorders.
Supplementation with bioavailable forms of folate and B12 can support neurotransmitter synthesis and improve mental health​​.
5. Detoxification
The liver's detoxification processes rely on effective methylation to neutralize and eliminate toxins from the body. MTHFR mutations can impair these processes, leading to an accumulation of harmful substances and increased oxidative stress.
Supporting methylation with L-methylfolate and other methyl donors can enhance detoxification pathways and promote overall health​​.
So Is It That Straight Forward?
Simply starting L-methylfolate and methylcobalamin (Vitamin B12) may not address the health complications that had decades to develop. Even if your body is deficient in these you may need a careful and gradual approach with other key nutrients first. This ensures you are not experiencing increased anxiety, skin itch, headaches and migraines as you start the tailored treatment.
Practical Steps for Support
For individuals with MTHFR mutations, focusing on dietary and supplemental sources of bioavailable folate and B vitamins is an essential first step
Here are some practical steps:
Eliminate: A full gluten and dairy free commitment is essential. Also consider eliminating all foods fortified with synthetic B vitamins, including folic acid.
Include: Incorporate a daily intake of leafy green vegetables, preferably raw. You can have these as salads or blend them into a smoothie.
Consider: Speak to a Naturopath (like myself) to help you choose supplements that contain L-methylfolate and active B12 (methylcobalamin) to bypass the impaired enzyme function​.
Lifestyle: Manage stress, ensure adequate sleep (this is the time when the body heals and repairs), and engage in regular physical activity to support overall health and methylation processes.
Understanding and addressing the complications associated with MTHFR mutations can lead to significant improvements in health and quality of life. By focusing on effective methylation support, we can mitigate the impacts of these genetic variations and promote better overall well-being.
Would like to get tested? You can purchase this convenient do--it-at-home test kit and a report HERE
References
Nutripath. (n.d.). Methylation & MTHFR Manual. Retrieved from Nutripath.
Seeking Health. (2021). 7 Signs You Need Methylation Support. Retrieved from Seeking Health.
Mayo Clinic. (n.d.). Hypothyroidism (underactive thyroid). Retrieved from Mayo Clinic.
MedlinePlus. (n.d.). Methylenetetrahydrofolate reductase (MTHFR) mutation. Retrieved from MedlinePlus.
Homocysteine and folate status in hypothyroid patients. (2021). PubMed. Retrieved from PubMed.
PubMed. (n.d.). Elevated homocysteine levels and thyroid function. Retrieved from PubMed.
These references provide detailed insights and scientific evidence on the relationship between MTHFR mutations and thyroid health, the role of methylation, and the implications for managing thyroid dysfunctions.
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