M-T-H-F-R is not a swear word and it’s not a disease!
MTHFR gene provides instructions to an enzyme called methylenetetrahydrofolate reductase. Enzymes are chemicals that help to break down amino acids to make proteins and other compounds our body needs. This enzyme helps to convert the vitamin B9 (also called folate) from the foods and dietary supplements we consume into a usable form to be used immediately by the body.
MTHFR enzyme breaks down an amino acid called homocysteine (pronounced ho-mow-sis-teen) so it can be converted into other amino acids that are used to build proteins and other vital compounds. This chemical breakdown is done through a process called methylation and it happens in every cell of our body. Methylation is like an “on-off” light switch that the cells use for creating enzymes, repairing tissues, and determining how proteins get synthesized according to the MTHFR genetic instructions.
Why MTHFR is important?
If there is a deficiency or low levels of vitamin B9 in the blood, then the cells cannot perform methylation as efficiently as it should. Methylation issues and variations in the MTHFR gene can elevate homocysteine levels when the enzyme is not functioning to normal capacity to convert vitamin B9 to its useable form. Such low levels of folate and high levels of homocysteine can lead to various health conditions, such as cardiovascular disease.
Who is affected?
MTHFR genetic variations are common and it affects 40-50% of the population because we share a similar genetic profile with many others. There are over thirty variants of the MTHFR gene, but two common variants are C677T and A1298C. You may have one of the following possibilities:
· Heterozygous – having one copy of the C677T variation and one normal copy
· Homozygous – having two copies of the C677T variation.
Your genetic blueprint, diet, and lifestyle choices are important factors that determine how the MTHFR gene will get turned on or off.