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Overall Function of MTHFR Gene: The MTHFR gene codes for the MTHFR enzyme which help a process called methylation. The MTHFR enzyme participates in many functions including brain function, turning genes on/off, DNA repair, detoxing toxins, and metabolism.

MTHFR Enzyme: The MTHFR gene provides instructions for producing the MTHFR enzyme, which is critical for a metabolic process involved in DNA repair, gene regulation, and various other functions.

Methylation Process: The methylation process, heavily influenced by the MTHFR gene, involves the addition of methyl groups to essential functions in the body, such as DNA repair, gene regulation, and detoxification.

Homocysteine Regulation: The MTHFR gene plays a role in regulating homocysteine levels. Homocysteine is an amino acid linked to cardiovascular health, and MTHFR mutations can impact its conversion to essential substances like glutathione.

C677T and A1298C are the most well-studied and tested MTHFR mutations. This number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP (pronounced “snip”).

C677T Mutation:

Function: The C677T mutation involves a change in the DNA sequence of the MTHFR gene, resulting in a less efficient MTHFR enzyme.The 677 gene is correlated to reduced distribution of folate which compromises our ability to recycle homocysteine. Consequently, elevated levels of homocysteine are common and put you at risk for developing CVD.

Effect: Individuals with a heterozygous mutation (C677T) have one copy of the mutated gene, leading to a 35% decrease in normal enzyme activity. Homozygous individuals (T677T) have two copies of the mutated gene, causing a 70% decrease in enzyme activity.

Consequences: Reduced enzyme activity affects the conversion of homocysteine to glutathione, the body's primary antioxidant. It also impacts the methylation process, potentially increasing the risk of various health issues, including cardiovascular diseases, mental health disorders, and cancer.

A1298C Mutation:

Function: The A1298C mutation involves another variation in the MTHFR gene, influencing the conversion of 5-methylfolate (5MTHF) to tetrahydrofolate (THF). The 1298 gene specifically has been shown to decrease BH4 production and therefore reduce the ability to rid ammonia.

Effect: Individuals with a heterozygous mutation (A1298C) have one copy of the mutated gene, compromising the gene's function by about 30%. Homozygous individuals (C1298C) may have two copies of the mutated gene.

Consequences: The A1298C mutation does not typically lead to elevated homocysteine levels. Instead, it plays a role in generating BH4 (tetrahydrobiopterin), which is crucial for detoxifying ammonia and producing neurotransmitters. Dysfunction in BH4 production can lead to mental and/or physical symptoms, affecting mood and overall health. It can deplete neurotransmitters and can contribute to depression, anxiety, addictive behaviors and more.