High Levels of Homocysteine Caused by MTHFR Gene Mutation


Methylenetetrahydrofolatereductase enzyme, or MTHFR, breaks down the amino acid homocysteine and folate. The MTHFR gene is the one that carries the instructions for this enzyme, which means every person has two of these that are inherited from their parents. So each person has an MTHFR gene from each parent.


The MTHFR gene could mutate and affect the enzyme’s ability to do its job, which is to process the amino acid homocysteine and folate. If the enzyme is not able to break down the homocysteine and folate acids, then this could lead to serious health issues. The mutations can be found in either one (heterozygous) or both (homozygous) of these genes. When this is the case, it’s always good to know what the MTHFR symptoms are so you can take the necessary measures to counter them.

Variances in gene coding are common, but scientists are mostly focused on trying to figure out which variants should be of interest due to their health implications. The health implications could either be good or bad. There are at least 40 rare MTHFR gene variants that have been found among people with a reduced or non-working enzyme. Two MTHFR gene variants, called C677T and A1298C, are the ones that have been of major interest to researchers lately.

MTHFR researchers estimate that, in America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T.

High levels of homocysteine can be damaging to blood vessels and cause blood clots and other health complications. If they have high homocysteine levels, then it should be a concern to patients, but it may not necessarily be because of the MTHFR gene mutation. Before committing to testing for the gene mutation, doctors have to rule out dietary and lifestyle factors. This is because high homocysteine levels can also be caused by;

  • Dietary deficiencies,
  • Thyroid disease,
  • Diabetes,
  • High cholesterol, or
  • Lifestyle factors like the lack of physical activity, smoking, and obesity

If high homocysteine levels cannot be explained by any of these factors, then MTHFR gene testing may be necessary.

Significant levels of homocysteine in the blood could contribute to numerous health conditions, such as:

  • Birth abnormalities
  • Cardiovascular disease
  • Glaucoma
  • Mental health disorders
  • Certain types of cancer

The MTHFR symptoms for mutation are not easy to pinpoint because they vary with each individual. Most people do not know they have an MTHFR mutation unless they experience severe symptoms or go for a genetic test. The best way to get screening for an MTHFR mutation is through a doctor.

The doctor will examine the patient’s medical records, carry out a physical examination, and take into considering the symptoms being exhibited. The doctor will also take into consideration a blood test of the patient’s homocysteine levels. Symptoms could also vary according to the type of MTHFR mutation.

Medical treatment for MTHFR mutations is not always necessary. Depending on the MTHFR mutation variant, a patient can get by with a dietary and lifestyle change to offset any resulting nutritional deficiencies. Although, doctors would recommend medical treatment for those with high homocysteine levels.