What is MTHFR?


MTHFR is a genetic mutation that at least 40% of the population has. MTHFR or Methylenetetrahydrofolate Reductase is an enzyme that converts folic acid into methyl-folate (5MTHFR). Methyl-folate is the primary form of folate in our blood and is an important part of the body’s detoxification process doing so through a process called Methylation

Signs of MTHFR: Irregular periods, Migraines, Cold hands, Hot flashes, Weight gain/Bloating, Foggy brain, Poor focus and concentration, Fatigue, Low energy, Skin problems, Anxiety, Nausea, Inflammation 

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MTHFR Experts

Focused on helping individuals with MTHFR mutations

Signs of MTHFR: Irregular periods, Migraines, Cold hands, Hot flashes, Weight gain/Bloating, Foggy brain, Poor focus and concentration, Fatigue, Low energy, Skin problems, Anxiety, Nausea, Inflammation 

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BACKGROUND INFORMATION
MTHFR gene mutations create blockages that don’t allow all the body’s toxins to become detoxified due to being slowed by unmetabolized folic acid. Since our bodies have a hard time converting folic acid to methyl-folate, the unmetabolized folic acid sits in our bodies and so do the toxins. Without the proper detoxification, our bodies tend to react to toxins in a negative way.

The MTHFR (methylenetetrahydrofolate reductase) gene produces an enzyme that helps in  processing folate and regulating homocysteine levels in the body. Folate is a critical nutrient involved  in methylation, DNA synthesis and amino acid metabolism. Impaired folate metabolism due to MTHFR enzyme inactivity, or a low folate level, results in elevated  plasma homocysteine.

Homocysteine is an amino acid synthesized by the body through demethylation of methionine. In the  presence of adequate B vitamins, homocysteine is either irreversibly degraded to cysteine or it is remethylated back to methionine, an essential amino acid. An elevated homocysteine level is known to be an independent risk factor for ischemic stroke, thrombotic and cardiovascular diseases. Folate,vitamin B6 or vitamin B12 are all necessary for the proper conversion of homocysteine into  methionine. A deficiency in any of these vitamins can cause homocysteine levels to rise.

Two single nucleotide variants known to affect MTHFR function are C677T (a change from cytosine to thymine at position 677 within the gene) and the A1298C mutation (a change from adenine to cytosine at position 1298 within the gene).It is not uncommon for some individuals to have both MTHFR variants. Clinical relevance for hyperhomocysteniemia is associated with homozygosity for C677T. In general, these genotypes produce MTHFR enzyme with reduced function and activity.

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