Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is a common genetic disorder that many people are unaware they suffer from. It’s one of the most common mutations and may affect up to 40% of the population according to some studies.
This enzyme is important for the conversion of homocysteine to methionine. Without getting too deep into the biochemistry, this enzyme converts folate into a form the body is able to use. Folate then facilitates the conversion of homocysteine to methionine. Methionine is important for protein production.
So, what’s the problem with MTHFR deficiency?
For a long time, this was not recognized. It’s now clear that this mutation by its nature affects the methylation process in the body. Methylation is the process of transferring a methyl group to another compound. This causes activation or inactivation of certain processes including gene expression, protein function and synthesis, RNA processes, and more. When this system goes wrong, it can have ramifications throughout the body.
It has been linked to a number of diseases you should be concerned with.
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