Blog ❯ MTHFR Gene Mutation: Health Concern or Overblown Hype?

MTHFR Gene Mutation: Health Concern or Overblown Hype?

Contents

What is the MTHFR gene?
Common MTHFR gene variants or mutations
MTHFR gene mutation: the health concerns
3 common MTHFR myths debunked
Genetic testing and interpretation
Lifestyle recommendations for MTHFR gene mutation carriers
Embrace wellness, MTHFR mutation or not

Ever heard of the MTHFR gene mutation? It’s responsible for folate metabolism. This B vitamin helps build DNA, which is a pretty vital process.

These variants are actually more common than you think.

So, what’s all the hype about? Are MTHFR gene mutations a legitimate health concern?

Read on to explore MTHFR gene mutation, its effect on health, and what the science says.

What is the MTHFR gene?

It’s important to know your genetics. The methylenetetrahydrofolate reductase or MTHFR gene is a gene with a tall order to fill. It encodes the MTHFR enzyme.

  • The MTHFR enzyme is vital for amino acid processing. It helps convert folate (vitamin B9) from food into a form the body can use. In science talk, it turns 5,10-methylenetetrahydrofolate (5,10-MTHF) into the active 5-MTHF form.
  • This conversion then contributes to DNA biosynthesis and repair. It plays a role in red blood cell production and nervous system development.
  • Active 5-MTHF also helps metabolizes amino acids. In particular, it converts the amino acid homocysteine back into methionine.
  • The body uses methionine during methylation to make proteins, lipids, and other essential compounds.

These functions contribute to healthy cell function, gene expression, and DNA production.

Common MTHFR gene variants or mutations

You inherit a copy of the MTHFR gene from each parent. This results in a specific genotype or genetic expression. You can have one, two, or no mutations on the MTHR gene.

These mutations are also called variants or single nucleotide polymorphisms (SNPs). They can affect the MTHR gene’s ability to function. This may lead to health issues.

The most widely studied MTHFR gene mutations include:

  • MTHFR C677T. This is the most common MTHFR gene mutation worldwide. It substitutes the ‘C’ (cytosine) nucleotide at base pair 677 with ‘T’ (thymine).
  • MTHFR A1298C. This is another prevalent MTHFR gene variant. It replaces the ‘A’ (adenine) nucleotide at base pair 1298 with ‘C’ (cytosine).

MTHFR gene mutations are actually quite common. According to the Centers for Disease Control (CDC), there are more people with the MTHFR C677T mutation than without it.

Researchers have found more than 40 such variants. Some extremely rare types exist, which could pose severe health risks.

These polymorphisms vary by region and ethnic group. For example, C677T is more prevalent in Europe than Africa. A1298C hasn’t been as extensively studied, but the variant is more common in Asia. It’s less prevalent in Europe and America, respectively.

Heterozygous vs. homozygous MTHFR gene mutations

Heterozygous MTHFR involves one copy of the mutated gene from one parent. For example: C677T or A1298C. These mutations have minor effects on health. Still, the C677T variant can reduce enzyme activity by 35%.

Homozygous MTHR means you have two copies of the same mutation from both parents. For example: T677T or C1298C.

These polymorphisms are generally considered to be more severe. According to the New England Journal of Medicine, T677T can minimize enzyme activity by up to 70%.

Compound heterozygous means you have one mutation on both the 677 and 1298 base pair. For example: C677T and A1298C. Although rare, these variants pose a higher health risk.

MTHFR gene mutation: the health concerns

As mentioned, the MTHFR enzyme plays a central role in processing amino acids. It converts homocysteine into methionine. The former naturally occurs in the body, although it’s potentially toxic. The latter is beneficial to building proteins and other compounds.

Homocysteine is broken down by active methyl-folate (5-MTHF). MTHFR gene variants can negatively influence this process.

The result? Higher homocysteine levels, which are linked to various health problems, including neurodegenerative diseases.

MTHFR gene mutations are thought to be associated with the following:

  • Hypertension. Low enzyme activity raises blood pressure in those with MTHFR 677TT genotype. Riboflavin supplements have proven partially beneficial. (Rooney et al., 2018.)
  • Cardiovascular disease. Upregulated homocysteine is a risk factor for atherosclerosis. These levels can be effectively modified with folate and vitamin B12 supplements. (Moriyama et al., 2002.)
  • Hyperhomocysteinemia. Extremely high homocysteine levels may lead to deep vein thrombosis, cardiovascular disease, pulmonary embolism, and pregnancy complications. (Darwish et al., 2021.)
  • Cancer risk. Evidence suggests that MTHFR C667T may be linked to pancreatic tumor growth. Folate metabolism could play a role. (Saxena et al., 2015.)
  • Congenital heart disease in offspring. Research suggests folate deficiency linked to MTHFR gene polymorphism may increase this risk. (Ting et al., 2009.)
  • Neural tube defects. MTHFR gene mutations are linked to these birth defects. The risk is slight and the direct cause remains unclear. (MedlinePlus.)
  • Mental health issues. The pathogenesis of major depression and schizophrenia may be influenced by MTHFR C677T polymorphism. (Zang et al., 2022.)
  • Folate metabolism. Reduced MTHFR activity elevates homocysteine levels. This reduces folate absorption,which affects RNA synthesis, methylation reactions, and DNA synthesis. Folate supplementation may be required. (Jacques et al., 1996.)

3 common MTHFR myths debunked

The research on MTHFR gene mutations is in a constant state of flux. Establishing a direct causal link between MTHFR polymorphism and health issues is challenging. This is due to diverse population responses, complex genetic factors, and overlapping symptoms.

Nonetheless, a few common myths persist:

  • Myth 1: Every MTHFR variant is problematic. Not all mutations manifest into health concerns. MTHFR gene mutation symptoms vary from person to person. These variants often go unnoticed unless problems occur or testing is done.
  • Myth 2: Direct links to numerous diseases. Despite the research, MTHFR gene mutations aren’t directly responsible for many diseases. These relationships are often indirect and influenced by other genetic and environmental factors.
  • Myth 3: Dietary supplements are a cure-all. Certain supplements like vitamin B6, vitamin B12, and folate offer incredible benefits. They’ve been shown to help manage homocysteine levels. But they don’t replace medical advice and a healthy lifestyle.

Genetic testing and interpretation

Most health organizations don’t recommend MTHFR gene mutation testing. The exceptions here are if you have extremely high homocysteine levels or other identified health issues.

But that doesn’t mean you can’t find out your MTHFR status. It may be useful to know. Speak to a healthcare professional. Home testing kits are available, but professional interpretation can yield better benefits.

Lifestyle recommendations for MTHFR gene mutation carriers

MTHFR gene variants may have health implications. These are primarily related to folate metabolism and homocysteine levels.

Here are five ways carriers can enhance their lifestyles:

  • Incorporate folate-rich foods into your diet. Examples include kale, spinach, chickpeas, lentils, nuts, and fortified grains.
  • Consider high-quality supplements like methyl-folate. It’s a bioavailable form of folate that bypasses conversion by the MTHFR enzyme.
  • Give yourself a healthy diet rich in vitamins B6 and B12. These work synergistically with folate metabolism.
  • Get regular exercise. It supports your metabolic health, aids longevity, (and makes you feel good).
  • Take a holistic approach. Balance genetic factors with your unique health profile. Consult a genetics expert for individualized advice on your MTHFR variant and overall health.

Get your naturopath, doctor, and dietitian involved. This way, you’ll get a well-rounded health management plan.

Embrace wellness, MTHFR mutation or not

The MTHFR gene mutation is associated with various health problems, but the reality is not all MTHFR variants are problematic. Dietary supplements, peptide therapy, and consistent exercise can help holistically reduce homocysteine levels.

Embrace wellness. Get your dose of naturopathic medicine at our LIVV Wellness Lounge.

Author: Dr. Jason Phan NMD – Founder of LIVV Natural – Anti-aging – regenerative medicine – peptide therapy