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Homocysteine balance & MTHFR

Homocysteine & MTHFR

Are you MTHFR? Have you checked your Homocysteine levels?

Note: Good homocysteine should be between 7 – 8 µmol/L

About Homocysteine

Homocysteine is the chemical that is released into the body as a result from a process called , it’s a normal process as long as the homocysteine your body produces is broken down into other useful, health-giving chemicals. Those with MTHFR gene problems often have homocysteine imbalances either high or low.

When homocysteine becomes elevated this is a warning sign that can result in any of the following:

  • Alzheimers disease

  • Cardiovascular disease mortality

  • Chronic heart failure

  • Heart attack

  • Cerebrovascular and peripheral vascular disease

  • Stroke

  • Cancer

  • Diabetes

  • Death

  • Coronary heart disease

Knowing your homocysteine levels can also mean the difference between life and death literally. It’s also important to understand that by simply keeping your homocysteine in check. So you can dramatically decrease your risk of many of the above health problems by as much as 50%. This is especially important for those that have MTHFR gene mutations because they are often more susceptible to homocysteine imbalances. Due to their reduced ability to convert folate. That is required to make methyltransferase which creates MTHFR that converts to SAMe.

Understanding MTHFR and Homocysteine

The MTHFR gene plays a crucial role in the metabolism of homocysteine, an amino acid that, when elevated, can increase the risk of blood clots, heart disease, and stroke. Homocysteine is a byproduct of protein metabolism and is converted into methionine with the help of the MTHFR enzyme. Elevated homocysteine levels can cause irritation of the blood vessels, leading to inflammation and damage. Understanding the relationship between MTHFR and homocysteine is essential for managing health risks associated with elevated homocysteine levels.

What Causes Elevated Homocysteine Levels?

Homocysteine in the body is produced from processing methionine a natural amino acid. Thus here normally homocysteine is broken down in two healthy beneficial chemicals called SAMe and glutathione. Which solves the problem of having high or elevated homocysteine.

Several factors can also cause elevated homocysteine, these include:

  • Having the MTHFR gene mutation

  • Nutritional problems

  • Stress

  • Genetic inheritance. e.g. Family history of any of the above diseases

  • Folate deficiency

  • Male sex (increased risk)

  • Oestrogen deficiency

  • Excessive alcohol, coffee or tea intake

  • Smoking

  • Lack of exercise

  • Hostility and repressed anger

  • Inflammatory bowel disease (ulcerative colitis, coeliac disease, Chron’s disease)

  • Pregnancy

  • Being vegetarian or vegan

  • High salt intake

  • Hat fat diet with excessive red meat, high-fat dairy intake

These factors can lead to increased plasma homocysteine concentrations, which are associated with various health outcomes, including cardiovascular risk.

How Homocysteine Works

In the below diagram you can see the processes that break down homocysteine into SAMe and glutathione. Any problems with either pathway lead to elevated or high levels of homocysteine…

As you can see there are several nutrients that work together to make homocysteine work properly.

The Role of MTHFR Gene in Homocysteine Metabolism

The MTHFR gene provides instructions for making the MTHFR enzyme, which is necessary for the conversion of homocysteine to methionine. The MTHFR enzyme is responsible for the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is then used to convert homocysteine to methionine. Mutations in the MTHFR gene can lead to reduced enzyme activity, resulting in elevated homocysteine levels. The MTHFR gene is also involved in the regulation of folate metabolism, and deficiencies in folate can lead to elevated homocysteine levels.

MTHFR gene & homocysteine

Those with MTHFR gene variants can also have trouble making this process work properly. But the obvious problem is that folate is needed to work with vitamin B12, B2, and zinc. People with MTHFR gene problems have also reduced the ability to convert folate making it much harder for this process to work properly. Genetic tests can help identify MTHFR gene variants, providing insights into potential medical conditions and guiding appropriate treatments. Further, those with MTHFR often have other nutritional problems that use up extra nutrients through over methylation, they run out of resources allowing homocysteine to build up putting themselves at higher risk of those diseases associated of high homocysteine.

But it’s not all bad news for those with MTHFR gene disorders. So the right treatments for MTHFR can improve folate conversion to raise methyltransferase to then produce more MTHFR to convert more SAMe.

MTHFR Mutations and Their Effects on Health

MTHFR mutations can have significant effects on health, particularly in individuals with elevated homocysteine levels. The most common MTHFR mutations are the C677T and A1298C polymorphisms, which can lead to reduced enzyme activity and elevated homocysteine levels. Individuals with MTHFR mutations are at increased risk of blood clots, heart disease, and stroke. Additionally, MTHFR mutations have been linked to an increased risk of neural tube defects, chronic kidney disease, and other health conditions.

Health Risks Associated with Elevated Homocysteine Levels

Elevated homocysteine levels are associated with an increased risk of cardiovascular disease, including coronary artery disease and stroke. Homocysteine can cause damage to the blood vessels, leading to inflammation and the formation of blood clots. Elevated homocysteine levels are also associated with an increased risk of neural tube defects, chronic kidney disease, and other health conditions. Managing elevated homocysteine levels is essential for reducing the risk of these health conditions.

Managing Elevated Homocysteine Levels and MTHFR Mutations

Managing elevated homocysteine levels and MTHFR mutations requires a comprehensive approach that includes dietary changes, supplements, and lifestyle modifications. Folic acid supplementation can help reduce homocysteine levels, particularly in individuals with MTHFR mutations. Additionally, increasing intake of vitamins B6 and B12, as well as omega-3 fatty acids, can help reduce homocysteine levels. Lifestyle modifications, such as regular exercise and stress reduction, can also help manage elevated homocysteine levels. Genetic testing for MTHFR mutations can help identify individuals at risk of elevated homocysteine levels and inform treatment decisions.