MTHFR Gene Testing and Methylation
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays an important role in the metabolism of B vitamins, particularly folate, and amino acids. Specifically, MTHFR is involved in converting the amino acid, homocysteine, to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
It is common for individuals to have mutations in the MTHFR gene, which can increase the need for certain nutrients. Therefore, supplementation is usually required. Individuals with two copies of a mutation, e.g. one inherited from their mother and one from their father, are called homozygous. Individuals with one copy of a mutation, e.g. one inherited from their mother or father, are called heterozygous.
The markers assessed in the MTHFR test include: Methylenetetrahydrofolate reductase (C677T & A1298C).
The test can be done through whole blood draw, blood spot or buccal (cheek) swab. The test is fairly inexpensive and easy to collect.
Common conditions associated with MTHFR gene mutations include:
- Cardiovascular Disease
- Recurrent Miscarriage
- Autism Spectrum Disorder
Assessing the MTHFR gene alone is usually not enough as it doesn’t assess if you are an under or over methylator.
To read more about MTHFR gene read here.
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