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Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1 (MTHFD1) is an enzyme which has three distinct functions in the one carbon pathway, and is encoded for by the MTHFD1 gene 1. Each of these three reactions forms an intermediary step in the formation of the essential amino acid methionine, the DNA building block deoxythymidine monophosphate (dTMP) and the group of molecules known as purines which form the basic building blocks of DNA and RNA 2.


Science Grade
Women's Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%) Major Amino Acid Minor Amino Acid
rs2236225 g a 43 Arg Gln

Risk Description

The risk ‘A’ allele of G1958A in the MTHFD1 gene is associated with developmental issues associated with improper maternal folate intake 3. Rather than alter one of MTHFD1’s three enzyme activity the ‘A’ allele is thought to lead to reduced enzyme stability meaning it is degraded more rapidly 4.

Lifestyle Considerations:

Behavior Description
Maternal supplementation

The risk ‘A’ allele of G1958A is associated with developmental defects, due to a lack of folate 3,5.

There are no described effects in adults so dietary folate supplementation may only be required during pregnancy.

Indirect Nutrients:*

Ingredient Active Ingredient Effect
Folate Methyltetrahydrofolate

The risk ‘A’ allele of G1958A is associated with developmental defects arising during pregnancy, due to a lack of folate 3,5.

Ensuring a proper dietary intake of folate during pregnancy may therefore be beneficial to those carrying the risk ‘A’ allele.

Discuss this information with your doctor before taking any course of action.


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