What is the MTHFR Gene Mutation?
The MTHFR gene encodes the enzyme methylenetetrahydrofolate reductase (MTHFR). This enzyme plays a crucial role in converting folate, in the presence of cofactors, into its active form, 5-methyltetrahydrofolate, which is essential for various biochemical reactions within the human body. This conversion occurs through a process called methylation, which involves adding a methyl group to a target molecule, thereby activating it for subsequent biological functions.
The activation of folate as 5-methyltetrahydrofolate is vital for numerous physiological processes, including DNA synthesis, immune function, amino acid metabolism, detoxification, blood cell and platelet formation, and single carbon metabolism. These processes are fundamental to maintaining overall health and proper bodily functions.
In this guide, we will delve deeper into the metabolism of folate, the role of the MTHFR gene in this process, and the broader concepts of genomics and epigenetics. Understanding the significance of the MTHFR gene and its impact on folate metabolism provides valuable insights into how genetic variations can effect our health and why examining our genes is important for personalised medicine and disease prevention.
Do I carry the MTHFR Mutation?
A blood test is required to determine if you are carrying the MTHFR Gene Mutation, and if so, which copy or copies of the gene mutation is present. To book your blood test click here.
Are there different MTHFR Gene types?
The consequences of MTHFR gene mutations vary depending on the specific mutation. Generally, these mutations lead to reduced methylation within the body and decreased production of active folate (5-MTHF). The extent of this reduction can result in a 20% to 70% loss of enzyme function.
Each person inherits two copies of the MTHFR gene, one from each parent. The loss of enzyme function depends on whether one or both copies of the MTHFR gene are mutated. The MTHFR gene can have several mutations, with C677T and A1298C being two of the most common. People can carry either one copy (of either the C677T or A1298C), known as heterozygous, or two copies of either mutation, know an homozygous. In addition, it is possible to carry one copy of each mutation, and this is referred to as C667T and A1298C compound heterozygous.
The impact MTHFR has on methylation depends on the type of mutation:
- C677T Heterozygous Mutation: Approximately 40% loss of function.
- A1298C Heterozygous Mutation: Approximately 20% loss of function.
- C677T Homozygous Mutation: Approximately 70% loss of function.
- A1298C Homozygous Mutation: Approximately 40% loss of function.
- Compound Heterozygous Mutation: Approximately 50% loss of function.
In summary, individuals with two copies of an MTHFR gene mutation generally experience less methylation. Understanding the specific mutations present can help in managing and mitigating potential health impacts related to reduced methylation.
Managing MTHFR Gene Mutations
Knowing whether you have an MTHFR gene mutation is crucial because it can significantly impact your biochemistry, affecting your energy levels, hormones, mood, immune system, and detoxification processes.
The environment plays a significant role in how MTHFR mutations affect your health. Factors such as diet, sleep, stress, and exposure to toxins influence how your genes are expressed. Genes respond to environmental cues to determine their level of activity, which means that managing your environment can help mitigate the effects of MTHFR mutations.
Recent advances in nutritional and biochemical sciences have provided valuable insights into managing MTHFR mutations through diet and lifestyle. The goal is to consume foods that are easy to digest and do not cause inflammation, thereby reducing the burden on the body's detoxification systems.
Here are some guidelines to help manage MTHFR gene mutations:
- Avoid Cereal Grains: These are often fortified with counterproductive folic acid.
- Avoid Dairy Products: Dairy can put additional stress on the immune system.
- Avoid Processed Foods: These foods often contain added folic acid.
- Reduce or Modulate Stress: Stress responses consume lots of methyl groups.
- Reduce Environmental Toxins: Since MTHFR mutations impair detoxification.
NEW MTHFR Compounded Complex
NEW has partnered with a compounding pharmacy who have developed a compounded advanced nutrient therapy specifically for those who are MTHFR positive. This complex combination of advanced nutrients work together to effectively “install” a functioning methylation “factory” into the body.
One final but important note: It is not recommended that those with the MTHFR Gene Mutation take Folic Acid. Folic Acid is a synthetic compound that has no physiological function until converted to dihydrofolate by dihydrofolate reductase (DHFR). The DHFR enzyme breaks down folic acid much slower which causes a build-up of folic acid.
Folic acid has a stronger attraction to the folate receptors, blocking them from pulling natural folates into the cell for metabolic processes. Essentially that means you are putting a big hand brake on your folate pathway - the absolute opposite of what we need to do.