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MTHFR..an introduction

Faulty methylation has been linked to heart disease, stroke, reproductive disorders, neurodegenerative diseases like Alzheimer’s, Parkinson’s, ADHD, Autism Spectrum Disorders and fertility issues. It has also been linked to chronic fatigue, anxiety, depression, colon cancer, reproductive cancers, kidney infarct, cervical dysplasia, faulty detoxification and impaired DNA repair.

Methylation occurs when SAMe (S-adenosine methionine) donates a methyl group, which is then attached to the molecule that is being detoxified. SAMe then becomes homocysteine. Vitamin B6, B12, and folate are necessary to reduce homocysteine and keep the methylation process occurring smoothly. Methylation is also used in DNA regulation. If you have poor methylation, your cells will not function correctly leading to decline in health.


• MTHFR (Methylenetetrahydrofolate reductase) It is first converted to tetrahydrofolate (THF) then to 5,10-methyleneTHF. MTHFR is needed to further convert 5,10-methyleneTHF into active 5-methylTHF, in order to convert methionine from homocysteine. • MTR – 5-methyltetrahydrofolate-homocysteine methyltransferase is encoded by the MTR gene. It’s task is to regenerate methionine from homocysteine by using 5-Methyl-THF(levomefolic acid obtained from MTHFR conversion) as a methyl donor. Vitamin B12 is needed. • MTRR – this gene provides instructions for making methionine synthase reductase. Methionine synthase helps process amino acids, which are the building blocks of proteins. Specifically, it converts the amino acid homocysteine to methionine. • COMT – catalyzes the transfer of the functional methyl group from S-adenosylmethionine (SAMe) to the desired substrate. COMT snps can cause Impaired neurotransmitter metabolism, Decreased drug metabolism, Decreased detoxification of toxic catecholamine’s from the environment. Correlated with a variety of human disorders, including estrogen-induced cancers, Parkinson’s disease, depression, and hypertension. • HOMOCYSTEINE- A modified amino acid that is toxic at elevated levels. In high levels can lead to many of the disorders. Homocysteine is not obtained from the diet; For treatment to be effective, levels should be monitored and genetics should be evaluated to properly lower homocysteine.

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